A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5549175



Internal ID322863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:38732675..38734171hg38UCSC Ensembl
chr22:39128680..39130176hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg381497
hg191497
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17728955
Samples
Known GenesGTPBP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5549175
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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