A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv983566



Internal ID18272073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:25096347..25099614hg38UCSC Ensembl
Innerchr13:25670485..25673752hg19UCSC Ensembl
Innerchr13:24568485..24571752hg18UCSC Ensembl
Cytoband13q12.13
Allele length
AssemblyAllele length
hg383268
hg193268
hg183268
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1955514, nssv1955515, nssv1955510, nssv1955517, nssv1955512, nssv1955508, nssv1955511, nssv1955513, nssv1955509, nssv1955516
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPABPC3
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv983566
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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