A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5419379



Internal ID198511
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:45530060..45550254hg38UCSC Ensembl
chr1:45995732..46015926hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg3820195
hg1920195
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16901817
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5419379
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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