A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5430343



Internal ID209155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:23153102..23154943hg38UCSC Ensembl
chr1:23479595..23481436hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg381842
hg191842
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17683865
Samples
Known GenesLUZP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5430343
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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