A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv976109



Internal ID18611316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:42067564..42071321hg38UCSC Ensembl
Innerchr13:42641700..42645457hg19UCSC Ensembl
Innerchr13:41539700..41543457hg18UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg383758
hg193758
hg183758
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1960663, nssv1960668, nssv1960670, nssv1960664, nssv1960669, nssv1960666, nssv1960671, nssv1960665, nssv1960667, nssv1960672
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesDGKH
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv976109
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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