A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv947743



Internal ID18247904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:13591190..13592776hg38UCSC Ensembl
Innerchr10:13633190..13634776hg19UCSC Ensembl
Innerchr10:13673196..13674782hg18UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg381587
hg191587
hg181587
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1830844, nssv1830853, nssv1830846, nssv1830851, nssv1830848, nssv1830847, nssv1830845, nssv1830850, nssv1830852, nssv1830849
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPRPF18
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv947743
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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