A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17684713



Internal ID108379
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:116819070..116819903hg38UCSC Ensembl
chr12:117256875..117257708hg19UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg38834
hg19834
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5556847
Supporting Variants
Samples
Known GenesRNFT2
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17684713
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000156


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