A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18179764



Internal ID20746804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:36109417..36187340hg38UCSC Ensembl
chr17:34436810..34514716hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3877924
hg1977907
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6509176
Supporting Variants
Samples
Known GenesTBC1D3B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18179764
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.20896


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