A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv562960



Internal ID16350369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:101239108..101243967hg38UCSC Ensembl
Innerchr13:101891459..101896318hg19UCSC Ensembl
Innerchr13:100689460..100694319hg18UCSC Ensembl
Cytoband13q33.1
Allele length
AssemblyAllele length
hg384860
hg194860
hg184860
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv818132, nssv818131, nssv818133
Samples
Known GenesNALCN
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv562960
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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