A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv963216



Internal ID18251771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:26136593..26137593hg38UCSC Ensembl
Innerchr2:26359462..26360462hg19UCSC Ensembl
Innerchr2:26212966..26213966hg18UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg381001
hg191001
hg181001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2163829, nssv2163830, nssv2163834, nssv2163833, nssv2163837, nssv2163832, nssv2163835, nssv2163828, nssv2163831, nssv2163836
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesRAB10
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv963216
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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