A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17684716



Internal ID108382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:116847797..116848993hg38UCSC Ensembl
chr12:117285602..117286798hg19UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg381197
hg191197
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5505524
Supporting Variants
Samples
Known GenesRNFT2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17684716
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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