A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv608256



Internal ID16048979
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:117288317..117400063hg38UCSC Ensembl
Innerchr7:116928371..117040117hg19UCSC Ensembl
Innerchr7:116715607..116827353hg18UCSC Ensembl
Cytoband7q31.2
Allele length
AssemblyAllele length
hg38111747
hg19111747
hg18111747
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1092825
Samples
Known GenesASZ1, WNT2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv608256
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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