A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv977981



Internal ID18266500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:55776220..55830390hg38UCSC Ensembl
Innerchr16:55810132..55864302hg19UCSC Ensembl
Innerchr16:54367633..54421803hg18UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3854171
hg1954171
hg1854171
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2062172, nssv2062178, nssv2062180, nssv2062179, nssv2062174, nssv2062175, nssv2062177, nssv2062173, nssv2062171, nssv2062176
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCES1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv977981
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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