A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2369335



Internal ID17876321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:98679616..98681743hg38UCSC Ensembl
Innerchr5:98015320..98017447hg19UCSC Ensembl
Innerchr5:98043220..98045347hg18UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg382128
hg192128
hg182128
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv980702
Supporting Variants
SamplesHGDP01307
Known GenesRNU2-2P
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)nssv2369335
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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