A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18086690



Internal ID20653730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:233275591..233335263hg38UCSC Ensembl
chr2:234184237..234243909hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3859673
hg1959673
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6338498
Supporting Variants
Samples
Known GenesATG16L1, SAG, SCARNA5, SCARNA6
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18086690
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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