A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2348573



Internal ID17855046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:20300964..20305633hg38UCSC Ensembl
Innerchr5:20301073..20305742hg19UCSC Ensembl
Innerchr5:20336830..20341499hg18UCSC Ensembl
Cytoband5p14.3
Allele length
AssemblyAllele length
hg384670
hg194670
hg184670
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv968884
Supporting Variants
SamplesHGDP01029
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)nssv2348573
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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