A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv607699



Internal ID16048422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:82328229..82363944hg38UCSC Ensembl
Innerchr7:81957545..81993260hg19UCSC Ensembl
Innerchr7:81795481..81831196hg18UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg3835716
hg1935716
hg1835716
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1155222
SamplesNINDS_94
Known GenesCACNA2D1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv607699
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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