A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv976101



Internal ID18264622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:30460398..30464014hg38UCSC Ensembl
Innerchr13:31034535..31038151hg19UCSC Ensembl
Innerchr13:29932535..29936151hg18UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg383617
hg193617
hg183617
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1958640, nssv1958634, nssv1958639, nssv1958641, nssv1958635, nssv1958633, nssv1958637, nssv1958636, nssv1958642, nssv1958638
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesHMGB1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv976101
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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