A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2360299



Internal ID17842004
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:67607264..67609729hg38UCSC Ensembl
Innerchr5:66903092..66905557hg19UCSC Ensembl
Innerchr5:66938848..66941313hg18UCSC Ensembl
Cytoband5q13.1
Allele length
AssemblyAllele length
hg382466
hg192466
hg182466
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv968186
Supporting Variants
SamplesHGDP00998
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)nssv2360299
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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