A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv965862



Internal ID18601092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:23673999..23776683hg38UCSC Ensembl
Innerchr20:23654636..23757320hg19UCSC Ensembl
Innerchr20:23602636..23705320hg18UCSC Ensembl
Cytoband20p11.21
Allele length
AssemblyAllele length
hg38102685
hg19102685
hg18102685
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2231452, nssv2231450, nssv2231451, nssv2231446, nssv2231455, nssv2231453, nssv2231448, nssv2231449, nssv2231454, nssv2231447
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCST1, CST4
MethodSequencing
Analysislineage specific fixed duplications
lineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv965862
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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