A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv947982



Internal ID18248142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:49850793..49863196hg38UCSC Ensembl
Innerchr10:51058839..51071242hg19UCSC Ensembl
Innerchr10:50728845..50741248hg18UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg3812404
hg1912404
hg1812404
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1846753, nssv1846761, nssv1846755, nssv1846757, nssv1846756, nssv1846758, nssv1846762, nssv1846759, nssv1846760, nssv1846754
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesPARG
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv947982
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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