A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5438307



Internal ID216875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:160784465..160784737hg38UCSC Ensembl
chr3:160502253..160502525hg19UCSC Ensembl
Cytoband3q25.33
Allele length
AssemblyAllele length
hg38273
hg19273
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16941963
Samples
Known GenesPPM1L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5438307
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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