A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv607698



Internal ID16048421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:82294125..82297492hg38UCSC Ensembl
Innerchr7:81923441..81926808hg19UCSC Ensembl
Innerchr7:81761377..81764744hg18UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg383368
hg193368
hg183368
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1155221
SamplesHGDP00759
Known GenesCACNA2D1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv607698
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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