A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18114608



Internal ID20681648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:22713592..22716436hg38UCSC Ensembl
chr4:22715215..22718059hg19UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg382845
hg192845
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6370853
Supporting Variants
Samples
Known GenesGBA3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18114608
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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