A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5452332



Internal ID230488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:230335154..230335530hg38UCSC Ensembl
chr1:230470900..230471276hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38377
hg19377
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16898342
Samples
Known GenesPGBD5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5452332
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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