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Variant : CV162857 (GRCh38/hg38 7p11.2(chr7:55538414-56107195)x3) Homo sapiens

Symbol: CV162857
Name: GRCh38/hg38 7p11.2(chr7:55538414-56107195)x3
Condition: See cases [RCV000141605]
Clinical Significance: uncertain significance
Last Evaluated: 02/06/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: CCT6A   CHCHD2   FRA7A   MRPS17   NIPSNAP2   PHKG1   PSPH   SEPTIN14   SNORA15   SNORA22B   SUMF2   VOPP1   ZNF713  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000007.14:g.(?_55538414)_(56107195_?)dup
NC_000007.13:g.(?_55606107)_(56174888_?)dup
NC_000007.12:g.(?_55573601)_(56142382_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38755,538,414 - 56,107,195CLINVAR
GRCh37755,606,107 - 56,174,888CLINVAR
Build 36755,573,601 - 56,142,382CLINVAR
Cytogenetic Map77p11.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9489130
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-05-12
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.