A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2356680



Internal ID17753839
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:50443831..50459141hg38UCSC Ensembl
Innerchr5:49739665..49754975hg19UCSC Ensembl
Innerchr5:49775422..49790732hg18UCSC Ensembl
Cytoband5q11.1
Allele length
AssemblyAllele length
hg3815311
hg1915311
hg1815311
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv980642
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)nssv2356680
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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