A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16904579



Internal ID3873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:67952739..67952790hg38UCSC Ensembl
chr1:68418422..68418473hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38141
hg19141
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5409546
Supporting Variants
Samples
Known GenesGNG12-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16904579
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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