A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2369146



Internal ID17743820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:98576526..98578545hg38UCSC Ensembl
Innerchr5:97912230..97914249hg19UCSC Ensembl
Innerchr5:97940130..97942149hg18UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg382020
hg192020
hg182020
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv980701
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)nssv2369146
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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