A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2365788



Internal ID17811433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:77146655..77147468hg38UCSC Ensembl
Innerchr5:76442480..76443293hg19UCSC Ensembl
Innerchr5:76478236..76479049hg18UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg38814
hg19814
hg18814
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv980687
Supporting Variants
SamplesHGDP00927
Known GenesZBED3-AS1
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)nssv2365788
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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