A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18209369



Internal ID20776409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:49749234..49819421hg38UCSC Ensembl
chr3:49786667..49856854hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3870188
hg1970188
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6375105
Supporting Variants
Samples
Known GenesCDHR4, FAM212A, IP6K1, MIR5193, UBA7
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18209369
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00028


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