A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961205



Internal ID18249765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:29207061..29208213hg38UCSC Ensembl
Innerchr19:29697968..29699120hg19UCSC Ensembl
Innerchr19:34389808..34390960hg18UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg381153
hg191153
hg181153
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2144689, nssv2144684, nssv2144687, nssv2144685, nssv2144686, nssv2144690, nssv2144688, nssv2144683, nssv2144692, nssv2144691
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesUQCRFS1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961205
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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