A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18083732



Internal ID20650772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:223759101..223761900hg38UCSC Ensembl
chr2:224623818..224626617hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg382800
hg192800
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6335735
Supporting Variants
Samples
Known GenesAP1S3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18083732
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00069


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