A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5472481



Internal ID250187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:44812916..44812996hg38UCSC Ensembl
chr5:44813018..44813098hg19UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg3881
hg1981
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16965453
Samples
Known GenesMRPS30
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5472481
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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