A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18184216



Internal ID20751256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:31989057..32002987hg38UCSC Ensembl
chr17:30316076..30330006hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3813931
hg1913931
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6496517
Supporting Variants
Samples
Known GenesSUZ12
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18184216
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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