A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv962993



Internal ID18251549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:4149888..4153645hg38UCSC Ensembl
Innerchr19:4149885..4153642hg19UCSC Ensembl
Innerchr19:4100885..4104642hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg383758
hg193758
hg183758
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2128487, nssv2128489, nssv2128482, nssv2128488, nssv2128481, nssv2128483, nssv2128490, nssv2128484, nssv2128485, nssv2128486
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCREB3L3
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv962993
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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