A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5434542



Internal ID213215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:140122133..140274374hg38UCSC Ensembl
chr2:140879702..141031943hg19UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg38152242
hg19152242
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16918927
Samples
Known GenesLRP1B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5434542
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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