A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16893231



Internal ID169641
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:186857181..186857183hg38UCSC Ensembl
chr1:186826313..186826315hg19UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5538710
Supporting Variants
Samples
Known GenesPLA2G4A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16893231
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.480487


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