A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv962578



Internal ID18597821
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:37047474..37055705hg38UCSC Ensembl
Innerchr20:35675877..35684108hg19UCSC Ensembl
Innerchr20:35109291..35117522hg18UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg388232
hg198232
hg188232
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2235240, nssv2235241, nssv2235247, nssv2235243, nssv2235246, nssv2235239, nssv2235244, nssv2235242, nssv2235245, nssv2235248
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesRBL1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv962578
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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