A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18041193



Internal ID20608233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:44715283..44715594hg38UCSC Ensembl
chr18:42295248..42295559hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg38312
hg19312
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6521359
Supporting Variants
Samples
Known GenesSETBP1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18041193
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00037


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