A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17714992



Internal ID138658
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:80313616..80315778hg38UCSC Ensembl
chr17:78287416..78289578hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg382163
hg192163
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6145703
Supporting Variants
Samples
Known GenesRNF213
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17714992
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.054834


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