A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17053985



Internal ID103832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:21482028..21482028hg38UCSC Ensembl
chr12:21634962..21634962hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38322
hg19322
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5414298
Supporting Variants
Samples
Known GenesRECQL
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17053985
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.023077


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