A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv734253



Internal ID16028209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:198795562..198805614hg38UCSC Ensembl
Innerchr1:198764691..198774743hg19UCSC Ensembl
Innerchr1:197031314..197041366hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3810053
hg1910053
hg1810053
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv548906
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)nssv734253
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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