A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18231803



Internal ID20798843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:458438..782915hg38UCSC Ensembl
chr6:458438..782915hg19UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg38324478
hg19324478
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6398391
Supporting Variants
Samples
Known GenesEXOC2, HUS1B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18231803
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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