A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv984338



Internal ID18619525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:55713078..55750376hg38UCSC Ensembl
Innerchr16:55746990..55784288hg19UCSC Ensembl
Innerchr16:54304491..54341789hg18UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3837299
hg1937299
hg1837299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2060662, nssv2060658, nssv2060661, nssv2060665, nssv2060659, nssv2060664, nssv2060657, nssv2060666, nssv2060660, nssv2060663
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCES1P2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv984338
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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