A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18057748



Internal ID20624788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:213259187..213259704hg38UCSC Ensembl
chr1:213432530..213433047hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg38518
hg19518
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6327755
Supporting Variants
Samples
Known GenesRPS6KC1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18057748
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00029


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