A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978805



Internal ID18614008
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:34533438..34538087hg38UCSC Ensembl
Innerchr19:35024343..35028992hg19UCSC Ensembl
Innerchr19:39716183..39720832hg18UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg384650
hg194650
hg184650
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2145421, nssv2145418, nssv2145426, nssv2145417, nssv2145422, nssv2145423, nssv2145419, nssv2145425, nssv2145420, nssv2145424
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv978805
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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