A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18202737



Internal ID20769777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:228653789..228670971hg38UCSC Ensembl
chr1:228789536..228806718hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg3817183
hg1917183
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6315670
Supporting Variants
Samples
Known GenesRHOU
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18202737
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00046


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