A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18084260



Internal ID20651301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:198010401..198011400hg38UCSC Ensembl
chr2:198875125..198876124hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg381000
hg191000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6344481
Supporting Variants
Samples
Known GenesPLCL1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18084260
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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