A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv607695



Internal ID16048418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:82173592..82210237hg38UCSC Ensembl
Innerchr7:81802908..81839553hg19UCSC Ensembl
Innerchr7:81640844..81677489hg18UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg3836646
hg1936646
hg1836646
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1089228
Samples
Known GenesCACNA2D1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv607695
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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