A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18208228



Internal ID20775268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:128262860..128274185hg38UCSC Ensembl
chr2:129020434..129031759hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg3811326
hg1911326
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6353670
Supporting Variants
Samples
Known GenesHS6ST1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18208228
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00087


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