A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2513902



Internal ID17743376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:93956940..93958038hg38UCSC Ensembl
Innerchr8:94969168..94970266hg19UCSC Ensembl
Innerchr8:95038344..95039442hg18UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg381099
hg191099
hg181099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv971337
Supporting Variants
SamplesHGDP00456
Known Genes
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)nssv2513902
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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