A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18038465



Internal ID20605505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:80251588..80267001hg38UCSC Ensembl
chr17:78225387..78240800hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3815414
hg1915414
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6523598
Supporting Variants
Samples
Known GenesRNF213, SLC26A11
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18038465
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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