A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18208710



Internal ID20775750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:73032060..73146367hg38UCSC Ensembl
chr3:73081211..73195518hg19UCSC Ensembl
Cytoband3p13
Allele length
AssemblyAllele length
hg38114308
hg19114308
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6371065
Supporting Variants
Samples
Known GenesEBLN2, PPP4R2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18208710
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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