A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv563005



Internal ID16350414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:105580652..105655000hg38UCSC Ensembl
Innerchr13:106233001..106307349hg19UCSC Ensembl
Innerchr13:105031002..105105350hg18UCSC Ensembl
Cytoband13q33.2
Allele length
AssemblyAllele length
hg3874349
hg1974349
hg1874349
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3372n54
Supporting Variantsnssv1148933, nssv1148934, nssv1148931, nssv1148936, nssv1148932, nssv1148935, nssv1148937
SamplesHGDP01001, HGDP01004, HGDP00862, HGDP01012, HGDP01016, HGDP01003, HGDP01015
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv563005
Frequency
Sample Size17421
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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