A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18080455



Internal ID20647496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:17313516..17314108hg38UCSC Ensembl
chr2:17494783..17495375hg19UCSC Ensembl
Cytoband2p24.2
Allele length
AssemblyAllele length
hg38593
hg19593
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6343371
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18080455
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00016


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