A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979431



Internal ID18614634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:35878469..35882284hg38UCSC Ensembl
Innerchr20:34466391..34470206hg19UCSC Ensembl
Innerchr20:33929805..33933620hg18UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg383816
hg193816
hg183816
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2234991, nssv2234985, nssv2234984, nssv2234992, nssv2234983, nssv2234988, nssv2234987, nssv2234990, nssv2234989, nssv2234986
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPHF20
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv979431
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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