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Variant : CV163789 (GRCh38/hg38 3p26.3(chr3:144528-713567)x3) Homo sapiens

Symbol: CV163789
Name: GRCh38/hg38 3p26.3(chr3:144528-713567)x3
Condition: See cases [RCV000142205]
Clinical Significance: likely benign|uncertain significance
Last Evaluated: 07/18/2014
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: CHL1   CHL1-AS1   CHL1-AS2   LINC01266  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000003.12:g.(?_144528)_(713567_?)dup
NC_000003.11:g.(?_186211)_(755251_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh383144,528 - 713,567CLINVAR
GRCh373186,211 - 755,251CLINVAR
Build 363161,211 - 730,251CLINVAR
Cytogenetic Map33p26.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9489724
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-02-11
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.