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Variant : CV159513 (GRCh38/hg38 7p21.1(chr7:18660228-20666885)x3) Homo sapiens

Symbol: CV159513
Name: GRCh38/hg38 7p21.1(chr7:18660228-20666885)x3
Condition: See cases [RCV000138724]
Clinical Significance: uncertain significance
Last Evaluated: 06/01/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ABCB5   FERD3L   HDAC9   HDAC9-AS1   ITGB8   MACC1   MACC1-AS1   MIR3146   TMEM196   TWIST1   TWISTNB  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000007.14:g.(?_18660228)_(20666885_?)dup
NC_000007.13:g.(?_18699851)_(20706508_?)dup
NC_000007.12:g.(?_18666376)_(20673033_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38718,660,228 - 20,666,885CLINVAR
GRCh37718,699,851 - 20,706,508CLINVAR
Build 36718,666,376 - 20,673,033CLINVAR
Cytogenetic Map77p21.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9486261
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-02-20
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.