A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5558072



Internal ID331147
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 StatusM
Merged Variants
Supporting Variantsnssv17710481
Samples
Known GenesSPNS3, UBE2G1
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5558072
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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