A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18178192



Internal ID20745232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:29414072..29422084hg38UCSC Ensembl
chr17:27741090..27749102hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg388013
hg198013
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6503446
Supporting Variants
Samples
Known GenesTAOK1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18178192
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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