A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5943582



Internal ID22719032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:48141001..48141590hg38UCSC Ensembl
chr17:46218363..46218952hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg38590
hg19590
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17375549
Samples
Known GenesSKAP1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5943582
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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