A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv974811



Internal ID18610020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:47565102..47579938hg38UCSC Ensembl
Innerchr16:47599013..47613849hg19UCSC Ensembl
Innerchr16:46156514..46171350hg18UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg3814837
hg1914837
hg1814837
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2061752, nssv2061748, nssv2061753, nssv2061745, nssv2061750, nssv2061747, nssv2061749, nssv2061751, nssv2061746, nssv2061744
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPHKB
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv974811
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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