A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5470232



Internal ID248002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:148228902..148229989hg38UCSC Ensembl
chr5:147608465..147609552hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg381088
hg191088
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16975605
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5470232
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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