A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5943281



Internal ID22718728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:56271587..56272638hg38UCSC Ensembl
chr13:56845721..56846772hg19UCSC Ensembl
Cytoband13q21.1
Allele length
AssemblyAllele length
hg381052
hg191052
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17371155
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5943281
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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