A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2311216



Internal ID17850192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:4207405..4238401hg38UCSC Ensembl
Innerchr4:4209132..4240128hg19UCSC Ensembl
Innerchr4:4260033..4291029hg18UCSC Ensembl
Cytoband4p16.2
Allele length
AssemblyAllele length
hg3830997
hg1930997
hg1830997
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv980180
Supporting Variants
SamplesHGDP01029
Known GenesOTOP1, TMEM128
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2311216
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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