A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5945244



Internal ID22720718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:42784613..42885932hg38UCSC Ensembl
chr13:43358749..43460068hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38101320
hg19101320
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17380664
Samples
Known GenesFAM216B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5945244
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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