A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv947742



Internal ID18247903
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:13317887..13320070hg38UCSC Ensembl
Innerchr10:13359887..13362070hg19UCSC Ensembl
Innerchr10:13399893..13402076hg18UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg382184
hg192184
hg182184
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1832498, nssv1832501, nssv1832502, nssv1832497, nssv1832493, nssv1832499, nssv1832500, nssv1832494, nssv1832496, nssv1832495
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesSEPHS1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv947742
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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