A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17054937



Internal ID104462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:3079047..3080403hg38UCSC Ensembl
chr12:3188213..3189569hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg381357
hg191357
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5495547
Supporting Variants
Samples
Known GenesTSPAN9
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17054937
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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