A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18084536



Internal ID20651576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:240266201..240271300hg38UCSC Ensembl
chr2:241205618..241210717hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg385100
hg195100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6351281
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18084536
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00463


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