A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5412179



Internal ID191483
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 StatusM
Merged Variants
Supporting Variantsnssv16893607
Samples
Known GenesAXDND1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5412179
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer