A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5425689



Internal ID204646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:150299196..150303665hg38UCSC Ensembl
chr1:150271621..150276093hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg384470
hg194473
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16891160
Samples
Known GenesMRPS21
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5425689
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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