A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2371440



Internal ID17815309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:109049816..109052298hg38UCSC Ensembl
Innerchr5:108385517..108387999hg19UCSC Ensembl
Innerchr5:108413416..108415898hg18UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg382483
hg192483
hg182483
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv968974
Supporting Variants
SamplesHGDP00927
Known GenesFER
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)nssv2371440
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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