A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17684187



Internal ID107853
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:94401313..94401364hg38UCSC Ensembl
chr12:94795089..94795140hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5422224
Supporting Variants
Samples
Known GenesCCDC41
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17684187
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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