A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv984306



Internal ID18619494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:29342319..29380312hg38UCSC Ensembl
Innerchr16:29353640..29391633hg19UCSC Ensembl
Innerchr16:29261141..29299134hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3837994
hg1937994
hg1837994
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2054362, nssv2054364, nssv2054370, nssv2054371, nssv2054366, nssv2054369, nssv2054368, nssv2054363, nssv2054367, nssv2054365
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesSNX29P2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv984306
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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