A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17052874



Internal ID103100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:10076226..10076276hg38UCSC Ensembl
chr12:10228825..10228875hg19UCSC 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 Variantsnsv5421855
Supporting Variants
Samples
Known GenesCLEC1A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17052874
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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