A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5522264



Internal ID298535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:14613903..14772722hg38UCSC Ensembl
chr20:14594549..14753368hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg38158820
hg19158820
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17731085
Samples
Known GenesMACROD2, MACROD2-IT1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5522264
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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