A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5928461



Internal ID22703701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:48767183..48775820hg38UCSC Ensembl
chr17:46844545..46853182hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg388638
hg198638
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17372151
Samples
Known GenesTTLL6
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5928461
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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