A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18202703



Internal ID20769743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:226070498..226077388hg38UCSC Ensembl
chr1:226258199..226265089hg19UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg386891
hg196891
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6318273
Supporting Variants
Samples
Known GenesH3F3A, H3F3AP4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18202703
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0016


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