A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv563092



Internal ID16350501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:109783606..109787607hg38UCSC Ensembl
Innerchr13:110435953..110439954hg19UCSC Ensembl
Innerchr13:109233954..109237955hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg384002
hg194002
hg184002
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3389n54
Supporting Variantsnssv819721, nssv819720
Samples
Known GenesIRS2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv563092
Frequency
Sample Size17421
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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