A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17402064



Internal ID22459934
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 StatusS
Merged Variantsnsv5960654
Supporting Variants
Samples
Known GenesLRP1B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17402064
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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