A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5427123



Internal ID206033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:150301144..150318517hg38UCSC Ensembl
chr1:150273570..150290964hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg3817374
hg1917395
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16891161
Samples
Known GenesMRPS21
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5427123
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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