A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1173934



Internal ID15875265
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:187762486..187828450hg38UCSC Ensembl
Innerchr1:187731617..187797581hg19UCSC Ensembl
Innerchr1:185998240..186064204hg18UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg3865965
hg1965965
hg1865965
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv548447
Supporting Variants
SamplesHGDP00658
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1173934
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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