A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979532



Internal ID18614734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:32496704..32510712hg38UCSC Ensembl
Innerchr21:33869014..33883022hg19UCSC Ensembl
Innerchr21:32790885..32804893hg18UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg3814009
hg1914009
hg1814009
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2248349, nssv2248352, nssv2248345, nssv2248351, nssv2248348, nssv2248353, nssv2248354, nssv2248347, nssv2248350, nssv2248346
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesEVA1C
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv979532
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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