A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv984305



Internal ID18619493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:29194044..29235958hg38UCSC Ensembl
Innerchr16:29205365..29247279hg19UCSC Ensembl
Innerchr16:29112866..29154780hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3841915
hg1941915
hg1841915
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2054144, nssv2054139, nssv2054140, nssv2054142, nssv2054137, nssv2054146, nssv2054145, nssv2054138, nssv2054143, nssv2054141
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)nsv984305
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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