A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17712622



Internal ID136288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:32053959..32209546hg38UCSC Ensembl
chr17:30380978..30536565hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38155588
hg19155588
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5561493
Supporting Variants
Samples
Known GenesARGFXP2, RHOT1
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17712622
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000468


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