A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv607696



Internal ID16048419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:82176341..82201147hg38UCSC Ensembl
Innerchr7:81805657..81830463hg19UCSC Ensembl
Innerchr7:81643593..81668399hg18UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg3824807
hg1924807
hg1824807
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1155220
Samples1782681216_A
Known GenesCACNA2D1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv607696
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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