A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv965963



Internal ID18601193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:10472362..10476992hg38UCSC Ensembl
Innerchr21:11035465..11040095hg19UCSC Ensembl
Innerchr21:10057336..10061966hg18UCSC Ensembl
Cytoband21p11.1
Allele length
AssemblyAllele length
hg384631
hg194631
hg184631
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2242109, nssv2242112, nssv2242110, nssv2242115, nssv2242114, nssv2242111, nssv2242113, nssv2242108, nssv2242117, nssv2242116
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesBAGE2, BAGE3, BAGE4, BAGE5
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv965963
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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