A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18199734



Internal ID20766774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:114478401..114481700hg38UCSC Ensembl
chr1:115021023..115024322hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg383300
hg193300
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6315610
Supporting Variants
Samples
Known GenesTRIM33
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18199734
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0001


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