A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2384353



Internal ID17884687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:171389413..171391880hg38UCSC Ensembl
Innerchr5:170816417..170818884hg19UCSC Ensembl
Innerchr5:170749022..170751489hg18UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg382468
hg192468
hg182468
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv968270
Supporting Variants
SamplesHGDP01307
Known GenesNPM1
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)nssv2384353
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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