A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17716665



Internal ID140331
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:23873228..23873279hg38UCSC Ensembl
chr18:21453192..21453243hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg38244
hg19244
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5418205
Supporting Variants
Samples
Known GenesLAMA3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17716665
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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