A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18210001



Internal ID20777041
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:52985401..53000000hg38UCSC Ensembl
chr3:53019417..53034016hg19UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg3814600
hg1914600
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6357621
Supporting Variants
Samples
Known GenesSFMBT1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18210001
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00015


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