A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5514273



Internal ID290772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:47820543..47821403hg38UCSC Ensembl
chr17:45897909..45898769hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg38861
hg19861
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17713518
Samples
Known GenesOSBPL7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5514273
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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