A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18041887



Internal ID20608927
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:45839056..45883312hg38UCSC Ensembl
chr18:43419021..43463277hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg3844257
hg1944257
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6531800
Supporting Variants
Samples
Known GenesEPG5, SIGLEC15
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18041887
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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