A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv974780



Internal ID18609989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:20721095..20725374hg38UCSC Ensembl
Innerchr16:20732417..20736696hg19UCSC Ensembl
Innerchr16:20639918..20644197hg18UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg384280
hg194280
hg184280
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2051096, nssv2051100, nssv2051101, nssv2051095, nssv2051098, nssv2051099, nssv2051104, nssv2051103, nssv2051102, nssv2051097
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv974780
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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