A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18190076



Internal ID20757116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:28888293..28925540hg38UCSC Ensembl
chr17:27215311..27252558hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3837248
hg1937248
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6498281
Supporting Variants
Samples
Known GenesDHRS13, FLOT2, PHF12
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18190076
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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