A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17690352



Internal ID114018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:101395354..101395405hg38UCSC Ensembl
chr12:101789132..101789183hg19UCSC 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 Variantsnsv5428687
Supporting Variants
Samples
Known GenesARL1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17690352
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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