A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18104531



Internal ID20671571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:79055801..79061100hg38UCSC Ensembl
chr3:79104951..79110250hg19UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg385300
hg195300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6359499
Supporting Variants
Samples
Known GenesROBO1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18104531
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00049


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