A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2326892



Internal ID17421427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:98879204..98881274hg38UCSC Ensembl
Innerchr4:99800355..99802425hg19UCSC Ensembl
Innerchr4:100019378..100021448hg18UCSC Ensembl
Cytoband4q23
Allele length
AssemblyAllele length
hg382071
hg192071
hg182071
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv966299
Supporting Variants
SamplesHGDP00542
Known GenesEIF4E
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)nssv2326892
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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