A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2332409



Internal ID17819706
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:111551400..111553029hg38UCSC Ensembl
Innerchr4:112472556..112474185hg19UCSC Ensembl
Innerchr4:112692005..112693634hg18UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg381630
hg191630
hg181630
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv964083
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)nssv2332409
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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