A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18180987



Internal ID20748027
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:51191326..51843383hg38UCSC Ensembl
chr18:48717696..49369753hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg38652058
hg19652058
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6531251
Supporting Variants
Samples
Known GenesLOC100287225, MEX3C
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18180987
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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