A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv948173



Internal ID18248333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:103124034..103125807hg38UCSC Ensembl
Innerchr10:104883791..104885564hg19UCSC Ensembl
Innerchr10:104873781..104875554hg18UCSC Ensembl
Cytoband10q24.32
Allele length
AssemblyAllele length
hg381774
hg191774
hg181774
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1864582, nssv1864581, nssv1864586, nssv1864587, nssv1864583, nssv1864588, nssv1864584, nssv1864585, nssv1864579, nssv1864580
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesNT5C2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv948173
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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