A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16986456



Internal ID58403
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:112221694..112221745hg38UCSC Ensembl
chr6:112542895..112542946hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg38231
hg19231
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5400885
Supporting Variants
Samples
Known GenesLAMA4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16986456
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.003278


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