A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2509736



Internal ID17743339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:82287775..82292244hg38UCSC Ensembl
Innerchr8:83200010..83204479hg19UCSC Ensembl
Innerchr8:83362565..83367034hg18UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg384470
hg194470
hg184470
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv981957
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)nssv2509736
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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