A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18206506



Internal ID20773546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:113701601..113716600hg38UCSC Ensembl
chr2:114459178..114474177hg19UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg3815000
hg1915000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6341181
Supporting Variants
Samples
Known GenesSLC35F5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18206506
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00031


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