A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv606608



Internal ID16394017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:33092117..33153188hg38UCSC Ensembl
Innerchr7:33131729..33192800hg19UCSC Ensembl
Innerchr7:33098254..33159325hg18UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg3861072
hg1961072
hg1861072
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11272n54
Supporting Variantsnssv1155162
SamplesHGDP00885
Known GenesBBS9, RP9
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv606608
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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