A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978104



Internal ID18613309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:20238235..20239226hg38UCSC Ensembl
Innerchr16:20249557..20250548hg19UCSC Ensembl
Innerchr16:20157058..20158049hg18UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg38992
hg19992
hg18992
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2049626, nssv2049631, nssv2049624, nssv2049629, nssv2049625, nssv2049628, nssv2049630, nssv2049632, nssv2049627, nssv2049633
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)nsv978104
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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