A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5473550



Internal ID251236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:67230510..67231813hg38UCSC Ensembl
chr4:68096228..68097531hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg381304
hg191304
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16949462
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5473550
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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