A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960794



Internal ID18249355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:12528443..12530238hg38UCSC Ensembl
Innerchr19:12639257..12641052hg19UCSC Ensembl
Innerchr19:12500257..12502052hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg381796
hg191796
hg181796
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2133638, nssv2133647, nssv2133643, nssv2133645, nssv2133641, nssv2133644, nssv2133639, nssv2133640, nssv2133642, nssv2133646
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesZNF564
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960794
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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