A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18183749



Internal ID20750789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:48424825..48451053hg38UCSC Ensembl
chr17:46502187..46528415hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg3826229
hg1926229
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6519814
Supporting Variants
Samples
Known GenesSKAP1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18183749
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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