A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1173820



Internal ID15873721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:40881556..40908478hg38UCSC Ensembl
Innerchr1:41347228..41374150hg19UCSC Ensembl
Innerchr1:41119815..41146737hg18UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg3826923
hg1926923
hg1826923
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv546095
Supporting Variants
SamplesHGDP00319
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1173820
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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