A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5945044



Internal ID22720517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:40058783..40074739hg38UCSC Ensembl
chr13:40632920..40648876hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg3815957
hg1915957
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17376754
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5945044
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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