A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv716147



Internal ID16010103
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:69429166..69509977hg38UCSC Ensembl
Innerchr1:69894849..69975660hg19UCSC Ensembl
Innerchr1:69667437..69748248hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3880812
hg1980812
hg1880812
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv546451
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv716147
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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