A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv964397



Internal ID18599635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:41123326..41124661hg38UCSC Ensembl
Innerchr20:39751966..39753301hg19UCSC Ensembl
Innerchr20:39185380..39186715hg18UCSC Ensembl
Cytoband20q12
Allele length
AssemblyAllele length
hg381336
hg191336
hg181336
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2236157, nssv2236158, nssv2236162, nssv2236155, nssv2236160, nssv2236163, nssv2236164, nssv2236156, nssv2236159, nssv2236161
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesTOP1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv964397
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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