A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5447685



Internal ID225981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:142124426..142124547hg38UCSC Ensembl
chr2:142881995..142882116hg19UCSC Ensembl
Cytoband2q22.2
Allele length
AssemblyAllele length
hg38122
hg19122
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16925309
Samples
Known GenesLRP1B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5447685
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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