A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv965984



Internal ID18254528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:43563597..43567260hg38UCSC Ensembl
Innerchr21:44983478..44987141hg19UCSC Ensembl
Innerchr21:43807906..43811569hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg383664
hg193664
hg183664
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2249374, nssv2249369, nssv2249368, nssv2249367, nssv2249373, nssv2249370, nssv2249372, nssv2249375, nssv2249366, nssv2249371
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesHSF2BP
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv965984
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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