A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv971346



Internal ID18606566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:110105896..110109699hg38UCSC Ensembl
Innerchr8:111118125..111121928hg19UCSC Ensembl
Innerchr8:111187301..111191104hg18UCSC Ensembl
Cytoband8q23.2
Allele length
AssemblyAllele length
hg383804
hg193804
hg183804
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2516681, nssv2516673, nssv2516679, nssv2516677, nssv2516675, nssv2516680, nssv2516678, nssv2516672, nssv2516674, nssv2516676
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)nsv971346
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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