A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16893607



Internal ID169894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:179522823..179522823hg38UCSC Ensembl
chr1:179491958..179491958hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg38353
hg19353
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5412179
Supporting Variants
Samples
Known GenesAXDND1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16893607
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.325498


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