A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17053932



Internal ID103798
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:20904144..21381667hg38UCSC Ensembl
chr12:21057078..21534601hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38477524
hg19477524
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5505836
Supporting Variants
Samples
Known GenesIAPP, SLCO1A2, SLCO1B1, SLCO1B3, SLCO1B7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17053932
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