A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5563034



Internal ID335972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:47820538..47820543hg38UCSC Ensembl
chr17:45897904..45897909hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg386
hg196
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17713517
Samples
Known GenesOSBPL7
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5563034
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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