A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18001241



Internal ID20568281
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:50227984..50231894hg38UCSC Ensembl
chr12:50621767..50625677hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg383911
hg193911
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6464075
Supporting Variants
Samples
Known GenesLIMA1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18001241
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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