A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5530373



Internal ID306360
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:44157828..44157889hg38UCSC Ensembl
chr20:42786468..42786529hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17732530
Samples
Known GenesJPH2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5530373
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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