A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv984099



Internal ID18619289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:82248555..82252637hg38UCSC Ensembl
Innerchr15:82540896..82544978hg19UCSC Ensembl
Innerchr15:80327951..80332033hg18UCSC Ensembl
Cytoband15q25.2
Allele length
AssemblyAllele length
hg384083
hg194083
hg184083
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2034385, nssv2034384, nssv2034387, nssv2034388, nssv2034390, nssv2034383, nssv2034389, nssv2034382, nssv2034386, nssv2034381
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesEFTUD1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv984099
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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