A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16912337



Internal ID8976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:33311097..33311148hg38UCSC Ensembl
chr2:33536164..33536215hg19UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5409984
Supporting Variants
Samples
Known GenesLTBP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16912337
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001249


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