A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2390448



Internal ID17498271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:178007666..178039501hg38UCSC Ensembl
Innerchr5:177434667..177466502hg19UCSC Ensembl
Innerchr5:177367273..177399108hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3831836
hg1931836
hg1831836
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv968283
Supporting Variants
SamplesHGDP01029
Known GenesFAM153C
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)nssv2390448
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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