A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516498



Internal ID15443791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:129261588..129432183hg38UCSC Ensembl
Innerchr7:128901429..129072024hg19UCSC Ensembl
Innerchr7:128688665..128859260hg18UCSC Ensembl
Innerchr7:128495380..128665975hg17UCSC Ensembl
Cytoband7q32.1
Allele length
AssemblyAllele length
hg38170596
hg19170596
hg18170596
hg17170596
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv668689, nssv685674, nssv680178, nssv660854, nssv692923
Samples
Known GenesAHCYL2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516498
Frequency
Sample Size2026
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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