A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv971678



Internal ID18606895
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:86286924..86290295hg38UCSC Ensembl
Innerchr8:87299153..87302524hg19UCSC Ensembl
Innerchr8:87368269..87371640hg18UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg383372
hg193372
hg183372
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2511636, nssv2511641, nssv2511643, nssv2511645, nssv2511642, nssv2511644, nssv2511638, nssv2511640, nssv2511639, nssv2511637
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)nsv971678
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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