A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5520566



Internal ID296891
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:38303670..38304094hg38UCSC Ensembl
chr17:36459636..36460060hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38425
hg19425
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17712958
Samples
Known GenesMRPL45
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5520566
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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