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clinvar数据库variant_summary.txt.gz各列详细介绍

2. variant_summary.txt
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Generated weekly
Archived monthly (first Thurday of each month)


A tab-delimited report based on each variant at a location on the genome for which data have been submitted to ClinVar.  
The data for the variant are reported for each assembly, so most variants have a line for GRCh37 (hg19) and another line for GRCh38 (hg38).
 



AlleleID               integer value as stored in the AlleleID field in ClinVar  (//Measure/@ID in the XML)
Type                   character, the type of variant represented by the AlleleID
Name                   character, ClinVar's preferred name for the record with this AlleleID
GeneID                 integer, GeneID in NCBI's

原文地址:https://blog.csdn.net/qq_21478261/article/details/142338950

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