A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17058524



Internal ID106870
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:50782492..50794106hg38UCSC Ensembl
chr12:51176275..51187889hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg3811615
hg1911615
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5502956
Supporting Variants
Samples
Known GenesATF1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17058524
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.001093


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