A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv962658



Internal ID18597901
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:10539220..10540125hg38UCSC Ensembl
Innerchr21:10972332..10973237hg19UCSC Ensembl
Innerchr21:9994203..9995108hg18UCSC Ensembl
Cytoband21p11.1
Allele length
AssemblyAllele length
hg38906
hg19906
hg18906
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2241032, nssv2241029, nssv2241027, nssv2241026, nssv2241034, nssv2241028, nssv2241033, nssv2241025, nssv2241031, nssv2241030
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesTPTE
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv962658
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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