A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978151



Internal ID18613356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:53491433..53492025hg38UCSC Ensembl
Innerchr16:53525345..53525937hg19UCSC Ensembl
Innerchr16:52082846..52083438hg18UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg38593
hg19593
hg18593
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2062679, nssv2062678, nssv2062684, nssv2062682, nssv2062680, nssv2062683, nssv2062677, nssv2062686, nssv2062685, nssv2062681
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesAKTIP, RBL2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv978151
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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