A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17688769



Internal ID112435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:67311542..67311583hg38UCSC Ensembl
chr12:67705322..67705363hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg38131
hg19131
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5543136
Supporting Variants
Samples
Known GenesCAND1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17688769
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.573213


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