A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960793



Internal ID18596040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:12431874..12440761hg38UCSC Ensembl
Innerchr19:12542688..12551575hg19UCSC Ensembl
Innerchr19:12403688..12412575hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg388888
hg198888
hg188888
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2134133, nssv2134139, nssv2134134, nssv2134136, nssv2134138, nssv2134137, nssv2134140, nssv2134132, nssv2134131, nssv2134135
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesZNF443
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960793
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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