A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18200302



Internal ID20767342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:10131269..10131743hg38UCSC Ensembl
chr1:10191327..10191801hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg38475
hg19475
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6317208
Supporting Variants
Samples
Known GenesUBE4B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18200302
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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