A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2367780



Internal ID17751487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:80498354..80501924hg38UCSC Ensembl
Innerchr5:79794173..79797743hg19UCSC Ensembl
Innerchr5:79829929..79833499hg18UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg383571
hg193571
hg183571
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv968213
Supporting Variants
SamplesHGDP00521
Known GenesFAM151B
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)nssv2367780
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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