A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18120547



Internal ID20687587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:94262901..94264400hg38UCSC Ensembl
chr4:95184052..95185551hg19UCSC Ensembl
Cytoband4q22.3
Allele length
AssemblyAllele length
hg381500
hg191500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6389482
Supporting Variants
Samples
Known GenesSMARCAD1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18120547
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00073


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