A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1016463



Internal ID18758998
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:82173613..82871491hg38UCSC Ensembl
Innerchr7:81802929..82500807hg19UCSC Ensembl
Innerchr7:81640865..82338743hg18UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg38697879
hg19697879
hg18697879
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6516n100
Supporting Variantsnssv3655150
Samples
Known GenesCACNA2D1, PCLO
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1016463
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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