A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17055940



Internal ID105122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:12261216..12263371hg38UCSC Ensembl
chr12:12414150..12416305hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg382156
hg192156
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5511404
Supporting Variants
Samples
Known GenesLRP6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17055940
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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