A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv963076



Internal ID18598318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:53284251..53285332hg38UCSC Ensembl
Innerchr19:53787504..53788585hg19UCSC Ensembl
Innerchr19:58479316..58480397hg18UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg381082
hg191082
hg181082
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2156735, nssv2156732, nssv2156733, nssv2156731, nssv2156729, nssv2156727, nssv2156736, nssv2156730, nssv2156728, nssv2156734
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesFAM90A27P
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv963076
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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