A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2389628



Internal ID17809925
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:180682678..180687221hg38UCSC Ensembl
Innerchr5:180109678..180114221hg19UCSC Ensembl
Innerchr5:180042284..180046827hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg384544
hg194544
hg184544
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv964990
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)nssv2389628
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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