A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5444560



Internal ID222930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:220052587..220072587hg38UCSC Ensembl
chr1:220225929..220245929hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3820001
hg1920001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16896277
Samples
Known GenesBPNT1, RNU5F-1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5444560
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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