A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18195615



Internal ID20762655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:45724201..45728800hg38UCSC Ensembl
chr12:46117984..46122583hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg384600
hg194600
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6458427
Supporting Variants
Samples
Known GenesLINC00938
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18195615
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00087


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