A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv965983



Internal ID18254527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:43550291..43551533hg38UCSC Ensembl
Innerchr21:44970172..44971414hg19UCSC Ensembl
Innerchr21:43794600..43795842hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg381243
hg191243
hg181243
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2250050, nssv2250052, nssv2250051, nssv2250056, nssv2250057, nssv2250055, nssv2250054, nssv2250049, nssv2250048, nssv2250053
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesHSF2BP
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv965983
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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