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Variant : CV159049 (GRCh38/hg38 16p13.3(chr16:3303551-3965374)x3) Homo sapiens

Symbol: CV159049
Name: GRCh38/hg38 16p13.3(chr16:3303551-3965374)x3
Condition: See cases [RCV000138346]
Clinical Significance: likely pathogenic
Last Evaluated: 09/04/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ADCY9   C16orf90   CLUAP1   CREBBP   DNASE1   LINC02861   MIR6126   MTRNR2L4   NAA60   NLRC3   OR2C1   SLX4   TIGD7   TRAP1   ZNF174   ZNF597   ZNF75A   ZSCAN32  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000016.10:g.(?_3303551)_(3965374_?)dup
NC_000016.9:g.(?_3353551)_(4015375_?)dup
NC_000016.8:g.(?_3293552)_(3955376_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38163,303,551 - 3,965,374CLINVAR
GRCh37163,353,551 - 4,015,375CLINVAR
Build 36163,293,552 - 3,955,376CLINVAR
Cytogenetic Map1616p13.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9485895
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-01-14
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.