A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5442452



Internal ID220878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:244839099..244839500hg38UCSC Ensembl
chr1:245002401..245002802hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38402
hg19402
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16897717
Samples
Known GenesCOX20
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5442452
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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