A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961256



Internal ID18249816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:58392800..58398680hg38UCSC Ensembl
Innerchr19:58904167..58910047hg19UCSC Ensembl
Innerchr19:63595979..63601859hg18UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg385881
hg195881
hg185881
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2162410, nssv2162409, nssv2162406, nssv2162411, nssv2162415, nssv2162412, nssv2162414, nssv2162413, nssv2162408, nssv2162407
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesLOC646862, RPS5
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961256
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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