A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5540807



Internal ID315514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:48219175..48219238hg38UCSC Ensembl
chr22:48614987..48615050hg19UCSC Ensembl
Cytoband22q13.32
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17729696
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5540807
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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