A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18209314



Internal ID20776354
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:47749141..47771919hg38UCSC Ensembl
chr3:47790631..47813409hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3822779
hg1922779
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6372449
Supporting Variants
Samples
Known GenesSMARCC1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18209314
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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