A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2504078



Internal ID17740842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:58587176..58589405hg38UCSC Ensembl
Innerchr8:59499735..59501964hg19UCSC Ensembl
Innerchr8:59662289..59664518hg18UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg382230
hg192230
hg182230
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv971313
Supporting Variants
SamplesHGDP00456
Known GenesNSMAF
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2504078
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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