A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv608972



Internal ID16396381
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:148765085..148805077hg38UCSC Ensembl
Innerchr7:148462177..148502169hg19UCSC Ensembl
Innerchr7:148093110..148133102hg18UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg3839993
hg1939993
hg1839993
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1155690
SamplesHGDP00669
Known GenesCUL1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv608972
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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