A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv984273



Internal ID18272775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:16219860..16283196hg38UCSC Ensembl
Innerchr16:16313717..16377053hg19UCSC Ensembl
Innerchr16:16221218..16284554hg18UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg3863337
hg1963337
hg1863337
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2047811, nssv2047809, nssv2047814, nssv2047807, nssv2047808, nssv2047810, nssv2047805, nssv2047806, nssv2047812, nssv2047813
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesABCC6, NOMO3
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv984273
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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