A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv974890



Internal ID18263413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:28752496..28756059hg38UCSC Ensembl
Innerchr16:28763817..28767380hg19UCSC Ensembl
Innerchr16:28671318..28674881hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg383564
hg193564
hg183564
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2635814, nssv2635817, nssv2635812, nssv2635815, nssv2635811, nssv2635813, nssv2635808, nssv2635809, nssv2635816, nssv2635810
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv974890
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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