A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1174076



Internal ID15877211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:240863758..241006850hg38UCSC Ensembl
Innerchr1:241027058..241170150hg19UCSC Ensembl
Innerchr1:239093681..239236773hg18UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38143093
hg19143093
hg18143093
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv549458
Supporting Variants
SamplesHGDP00950
Known GenesRGS7
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1174076
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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