A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5418913



Internal ID198067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:162422678..162424239hg38UCSC Ensembl
chr1:162392468..162394029hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg381562
hg191562
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16891485
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5418913
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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