A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18213853



Internal ID20780893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:168871301..168881200hg38UCSC Ensembl
chr4:169792452..169802351hg19UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg389900
hg199900
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6387918
Supporting Variants
Samples
Known GenesPALLD
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18213853
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00031


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