A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18000384



Internal ID20567424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:45185131..45187153hg38UCSC Ensembl
chr12:45578914..45580936hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg382023
hg192023
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6469611
Supporting Variants
Samples
Known GenesPLEKHA8P1, RNY5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18000384
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