A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2373716



Internal ID17810989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:115284902..115289310hg38UCSC Ensembl
Innerchr5:114620599..114625007hg19UCSC Ensembl
Innerchr5:114648498..114652906hg18UCSC Ensembl
Cytoband5q22.3
Allele length
AssemblyAllele length
hg384409
hg194409
hg184409
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv968978
Supporting Variants
SamplesHGDP00927
Known GenesCCDC112
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)nssv2373716
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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