A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1089229



Internal ID15595729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:82196750..82222281hg38UCSC Ensembl
Innerchr7:81826066..81851597hg19UCSC Ensembl
Innerchr7:81664002..81689533hg18UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg3825532
hg1925532
hg1825532
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv607697
Supporting Variants
Samples
Known GenesCACNA2D1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1089229
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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