A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv948185



Internal ID18248345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:110933901..110937287hg38UCSC Ensembl
Innerchr10:112693659..112697045hg19UCSC Ensembl
Innerchr10:112683649..112687035hg18UCSC Ensembl
Cytoband10q25.2
Allele length
AssemblyAllele length
hg383387
hg193387
hg183387
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1867562, nssv1867559, nssv1867564, nssv1867561, nssv1867560, nssv1867556, nssv1867563, nssv1867565, nssv1867558, nssv1867557
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesRPL13AP6, SHOC2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv948185
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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