A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5431433



Internal ID210209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:50005473..50018998hg38UCSC Ensembl
chr1:50471145..50484670hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg3813526
hg1913526
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16904971
Samples
Known GenesAGBL4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5431433
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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