A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5552585



Internal ID325921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:186912656..186912706hg38UCSC Ensembl
chr1:186881788..186881838hg19UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16893235
Samples
Known GenesPLA2G4A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5552585
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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