A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17690644



Internal ID114310
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:106994037..106994088hg38UCSC Ensembl
chr12:107387815..107387866hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5427643
Supporting Variants
Samples
Known GenesCRY1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17690644
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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