A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2318593



Internal ID17750394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:49486925..49524562hg38UCSC Ensembl
Innerchr4:49488942..49526579hg19UCSC Ensembl
Innerchr4:49183599..49221336hg18UCSC Ensembl
Cytoband4p11
Allele length
AssemblyAllele length
hg3837638
hg1937638
hg1837738
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv966267
Supporting Variants
SamplesHGDP00521
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)nssv2318593
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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