A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18043000



Internal ID20610040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:54209209..54221350hg38UCSC Ensembl
chr18:51735579..51747720hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg3812142
hg1912142
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6522779
Supporting Variants
Samples
Known GenesMBD2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18043000
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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