A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18201651



Internal ID20768692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:169661694..169668531hg38UCSC Ensembl
chr1:169630932..169637769hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg386838
hg196838
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6333762
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18201651
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00041


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