A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960792



Internal ID18596039
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:12383610..12401072hg38UCSC Ensembl
Innerchr19:12494424..12511886hg19UCSC Ensembl
Innerchr19:12355424..12372886hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3817463
hg1917463
hg1817463
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2133509, nssv2133514, nssv2133510, nssv2133508, nssv2133513, nssv2133507, nssv2133511, nssv2133506, nssv2133512, nssv2133515
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesZNF799
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960792
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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