A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5408155



Internal ID187485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:186966971..186967022hg38UCSC Ensembl
chr1:186936103..186936154hg19UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg38232
hg19232
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16893240
Samples
Known GenesPLA2G4A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5408155
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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