A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18193475



Internal ID20760515
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:58904879..59021453hg38UCSC Ensembl
chr17:56982240..57098814hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg38116575
hg19116575
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6533240
Supporting Variants
Samples
Known GenesPPM1E, TRIM37
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18193475
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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