A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17710481



Internal ID134147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:4304122..4485497hg38UCSC Ensembl
chr17:4207417..4388792hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg38181376
hg19181376
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5558072
Supporting Variants
Samples
Known GenesSPNS3, UBE2G1
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17710481
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000312


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