A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5931517



Internal ID22706802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:42616574..42649699hg38UCSC Ensembl
chr17:40768592..40801717hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3833126
hg1933126
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17388088
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5931517
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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