A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18042246



Internal ID20609286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:54835365..54835507hg38UCSC Ensembl
chr18:52502596..52502738hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg38143
hg19143
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6526914
Supporting Variants
Samples
Known GenesRAB27B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18042246
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00394


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