A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv964496



Internal ID18599734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:39489929..39491762hg38UCSC Ensembl
Innerchr21:40861855..40863688hg19UCSC Ensembl
Innerchr21:39783725..39785558hg18UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg381834
hg191834
hg181834
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2249070, nssv2249071, nssv2249063, nssv2249066, nssv2249069, nssv2249065, nssv2249062, nssv2249068, nssv2249067, nssv2249064
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesSH3BGR
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv964496
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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