A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18199845



Internal ID20766885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:193102301..193108600hg38UCSC Ensembl
chr1:193071431..193077730hg19UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg386300
hg196300
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6332708
Supporting Variants
Samples
Known GenesGLRX2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18199845
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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