A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv963233



Internal ID18598474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:54051145..54053176hg38UCSC Ensembl
Innerchr2:54278282..54280313hg19UCSC Ensembl
Innerchr2:54131786..54133817hg18UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg382032
hg192032
hg182032
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2172063, nssv2172056, nssv2172058, nssv2172060, nssv2172065, nssv2172064, nssv2172061, nssv2172057, nssv2172059, nssv2172062
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)nsv963233
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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