A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18084248



Internal ID20651289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:197892413..197893744hg38UCSC Ensembl
chr2:198757137..198758468hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg381332
hg191332
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6354030
Supporting Variants
Samples
Known GenesPLCL1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18084248
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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