A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18194349



Internal ID20761389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:58799552..58806809hg38UCSC Ensembl
chr17:56876913..56884170hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg387258
hg197258
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6534503
Supporting Variants
Samples
Known GenesPPM1E
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18194349
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0002


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