A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17054336



Internal ID104055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:15746103..15746154hg38UCSC Ensembl
chr12:15899037..15899088hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg38277
hg19277
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5427937
Supporting Variants
Samples
Known GenesEPS8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17054336
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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