A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18084794



Internal ID20651834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:229392217..229394391hg38UCSC Ensembl
chr2:230256933..230259107hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg382175
hg192175
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6335867
Supporting Variants
Samples
Known GenesDNER
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18084794
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00183


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