A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv562983



Internal ID16350392
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:103032716..103049023hg38UCSC Ensembl
Innerchr13:103685066..103701373hg19UCSC Ensembl
Innerchr13:102483067..102499374hg18UCSC Ensembl
Cytoband13q33.1
Allele length
AssemblyAllele length
hg3816308
hg1916308
hg1816308
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3369n54
Supporting Variantsnssv818824, nssv818823
Samples
Known GenesSLC10A2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv562983
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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