A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17724611



Internal ID148277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:48917093..48920333hg38UCSC Ensembl
chr17:46994455..46997695hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg383241
hg193241
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5514737
Supporting Variants
Samples
Known GenesUBE2Z
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17724611
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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