A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv964494



Internal ID18599732
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:36015227..36017294hg38UCSC Ensembl
Innerchr21:37387525..37389592hg19UCSC Ensembl
Innerchr21:36309395..36311462hg18UCSC Ensembl
Cytoband21q22.12
Allele length
AssemblyAllele length
hg382068
hg192068
hg182068
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2248230, nssv2248229, nssv2248228, nssv2248234, nssv2248233, nssv2248227, nssv2248232, nssv2248226, nssv2248231, nssv2248225
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv964494
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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