A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979535



Internal ID18614737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:36131226..36134208hg38UCSC Ensembl
Innerchr21:37503524..37506506hg19UCSC Ensembl
Innerchr21:36425394..36428376hg18UCSC Ensembl
Cytoband21q22.12
Allele length
AssemblyAllele length
hg382983
hg192983
hg182983
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2246756, nssv2246750, nssv2246753, nssv2246757, nssv2246752, nssv2246749, nssv2246748, nssv2246751, nssv2246754, nssv2246755
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCBR3-AS1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv979535
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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