A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv712647



Internal ID16006603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:40881556..40918166hg38UCSC Ensembl
Innerchr1:41347228..41383838hg19UCSC Ensembl
Innerchr1:41119815..41156425hg18UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg3836611
hg1936611
hg1836611
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv546098
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)nssv712647
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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