A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18182051



Internal ID20749091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:4781139..4792989hg38UCSC Ensembl
chr16:4831140..4842990hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3811851
hg1911851
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6515410
Supporting Variants
Samples
Known GenesSEPT12, SMIM22
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18182051
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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