A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv964368



Internal ID18599606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:1161228..1162342hg38UCSC Ensembl
Innerchr20:1141872..1142986hg19UCSC Ensembl
Innerchr20:1089872..1090986hg18UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg381115
hg191115
hg181115
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2228303, nssv2228308, nssv2228306, nssv2228302, nssv2228307, nssv2228309, nssv2228304, nssv2228311, nssv2228305, nssv2228310
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPSMF1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv964368
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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