A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18082901



Internal ID20649941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:188736301..188737500hg38UCSC Ensembl
chr2:189601028..189602227hg19UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg381200
hg191200
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6337424
Supporting Variants
Samples
Known GenesDIRC1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18082901
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