A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5514737



Internal ID291231
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 StatusM
Merged Variants
Supporting Variantsnssv17724611
Samples
Known GenesUBE2Z
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5514737
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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