A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16905520



Internal ID4487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:84827469..84827520hg38UCSC Ensembl
chr1:85293152..85293203hg19UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5412836
Supporting Variants
Samples
Known GenesLPAR3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16905520
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.007181


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