A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv964379



Internal ID18599617
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:18782122..18783222hg38UCSC Ensembl
Innerchr20:18762766..18763866hg19UCSC Ensembl
Innerchr20:18710766..18711866hg18UCSC Ensembl
Cytoband20p11.23
Allele length
AssemblyAllele length
hg381101
hg191101
hg181101
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2230737, nssv2230742, nssv2230733, nssv2230735, nssv2230739, nssv2230741, nssv2230738, nssv2230740, nssv2230736, nssv2230734
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv964379
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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