A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18208253



Internal ID20775293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:197487307..197518617hg38UCSC Ensembl
chr2:198352031..198383341hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg3831311
hg1931311
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6345656
Supporting Variants
Samples
Known GenesHSPD1, HSPE1, HSPE1-MOB4, MOB4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18208253
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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