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Variant : CV163925 (GRCh38/hg38 5p15.31(chr5:9224116-9752796)x3) Homo sapiens

Symbol: CV163925
Name: GRCh38/hg38 5p15.31(chr5:9224116-9752796)x3
Condition: See cases [RCV000142283]
Clinical Significance: likely benign|uncertain significance
Last Evaluated: 07/18/2014
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: LINC02112   SEMA5A   SEMA5A-AS1   SNHG18   SNORD123   TAS2R1  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000005.10:g.(?_9224116)_(9752796_?)dup
NC_000005.9:g.(?_9224228)_(9752908_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh3859,224,116 - 9,752,796CLINVAR
GRCh3759,224,228 - 9,752,908CLINVAR
Build 3659,277,228 - 9,805,908CLINVAR
Cytogenetic Map55p15.31CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9489802
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-05-19
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.