A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18036064



Internal ID20603104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:48413199..48424517hg38UCSC Ensembl
chr17:46490561..46501879hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg3811319
hg1911319
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6519290
Supporting Variants
Samples
Known GenesSKAP1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18036064
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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