A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979558



Internal ID18614760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:13955049..13958355hg38UCSC Ensembl
Innerchr21:15327370..15330676hg19UCSC Ensembl
Innerchr21:14249241..14252547hg18UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg383307
hg193307
hg183307
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2678781, nssv2678780, nssv2678778, nssv2678774, nssv2678783, nssv2678776, nssv2678779, nssv2678777, nssv2678775, nssv2678782
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesANKRD20A11P
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv979558
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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