A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv947921



Internal ID18248081
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46870310..46999691hg38UCSC Ensembl
Innerchr10:46552752..46682151hg19UCSC Ensembl
Innerchr10:45972758..46102157hg18UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg38129382
hg19129400
hg18129400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1846686, nssv1846692, nssv1846691, nssv1846687, nssv1846690, nssv1846684, nssv1846685, nssv1846688, nssv1846689, nssv1846693
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesFRMPD2P1, PTPN20A, PTPN20B
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv947921
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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