A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17690366



Internal ID114032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:101649532..101649583hg38UCSC Ensembl
chr12:102043310..102043361hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5429536
Supporting Variants
Samples
Known GenesMYBPC1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17690366
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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