A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5525252



Internal ID301422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:58713945..58715139hg38UCSC Ensembl
chr20:57289001..57290195hg19UCSC Ensembl
Cytoband20q13.32
Allele length
AssemblyAllele length
hg381195
hg191195
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17733351
Samples
Known GenesNPEPL1, STX16-NPEPL1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5525252
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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