A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv963230



Internal ID18598471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:47830026..47832299hg38UCSC Ensembl
Innerchr2:48057165..48059438hg19UCSC Ensembl
Innerchr2:47910669..47912942hg18UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg382274
hg192274
hg182274
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2172360, nssv2172357, nssv2172356, nssv2172359, nssv2172354, nssv2172353, nssv2172355, nssv2172358, nssv2172361, nssv2172362
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesFBXO11
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv963230
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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