A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv974794



Internal ID18610003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:29126548..29149179hg38UCSC Ensembl
Innerchr16:29137869..29160500hg19UCSC Ensembl
Innerchr16:29045370..29068001hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3822632
hg1922632
hg1822632
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2054529, nssv2054527, nssv2054535, nssv2054533, nssv2054531, nssv2054536, nssv2054528, nssv2054534, nssv2054530, nssv2054532
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)nsv974794
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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