A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5524064



Internal ID300275
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:47304896..47306927hg38UCSC Ensembl
chr17:45382262..45384293hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg382032
hg192032
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17713482
Samples
Known GenesITGB3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5524064
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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