A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17053202



Internal ID103324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:12625091..12625121hg38UCSC Ensembl
chr12:12778025..12778055hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5417382
Supporting Variants
Samples
Known GenesCREBL2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17053202
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001093


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