A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18213670



Internal ID20780710
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:44208099..44242843hg38UCSC Ensembl
chr4:44210116..44244860hg19UCSC Ensembl
Cytoband4p13
Allele length
AssemblyAllele length
hg3834745
hg1934745
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6387558
Supporting Variants
Samples
Known GenesKCTD8
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18213670
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0001


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