A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv608238



Internal ID16395647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:114939980..114963355hg38UCSC Ensembl
Innerchr7:114580035..114603410hg19UCSC Ensembl
Innerchr7:114367271..114390646hg18UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg3823376
hg1923376
hg1823376
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1155389
SamplesHGDP01008
Known GenesMDFIC
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv608238
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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