A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18210005



Internal ID20777045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:52995301..53034900hg38UCSC Ensembl
chr3:53029317..53068916hg19UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg3839600
hg1939600
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6372864
Supporting Variants
Samples
Known GenesSFMBT1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18210005
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00023


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