A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18120260



Internal ID20687300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:76294806..76295459hg38UCSC Ensembl
chr4:77215959..77216612hg19UCSC Ensembl
Cytoband4q21.1
Allele length
AssemblyAllele length
hg38654
hg19654
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6387169
Supporting Variants
Samples
Known GenesFAM47E-STBD1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18120260
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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