A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5960654



Internal ID22735624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:141614080..141614080hg38UCSC Ensembl
chr2:142371649..142371649hg19UCSC Ensembl
Cytoband2q22.2
Allele length
AssemblyAllele length
hg38122
hg19122
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17402064
Samples
Known GenesLRP1B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5960654
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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