A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18086617



Internal ID20653658
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:231979353..231983114hg38UCSC Ensembl
chr2:232844063..232847824hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg383762
hg193762
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6350697
Supporting Variants
Samples
Known GenesDIS3L2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18086617
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00066


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