A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv963228



Internal ID18598469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:47132941..47141244hg38UCSC Ensembl
Innerchr2:47360080..47368383hg19UCSC Ensembl
Innerchr2:47213584..47221887hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg388304
hg198304
hg188304
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2170290, nssv2170297, nssv2170293, nssv2170299, nssv2170296, nssv2170294, nssv2170295, nssv2170291, nssv2170298, nssv2170292
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesC2orf61
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv963228
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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