A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2330475



Internal ID17453957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:102796375..102797470hg38UCSC Ensembl
Innerchr4:103717532..103718627hg19UCSC Ensembl
Innerchr4:103936616..103937711hg18UCSC Ensembl
Cytoband4q24
Allele length
AssemblyAllele length
hg381096
hg191096
hg181096
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv980236
Supporting Variants
SamplesHGDP00778
Known GenesUBE2D3
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)nssv2330475
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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