A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2372329



Internal ID17818815
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:109585762..109589955hg38UCSC Ensembl
Innerchr5:108921463..108925656hg19UCSC Ensembl
Innerchr5:108949362..108953555hg18UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg384194
hg194194
hg184194
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv964921
Supporting Variants
SamplesHGDP00927
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)nssv2372329
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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