A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv964495



Internal ID18253047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:39192446..39192946hg38UCSC Ensembl
Innerchr21:40564372..40564872hg19UCSC Ensembl
Innerchr21:39486242..39486742hg18UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg38501
hg19501
hg18501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2248778, nssv2248776, nssv2248774, nssv2248775, nssv2248777, nssv2248783, nssv2248780, nssv2248781, nssv2248779, nssv2248782
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesBRWD1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv964495
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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