A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5935461



Internal ID22710803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:49706926..49708171hg38UCSC Ensembl
chr13:50281062..50282307hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg381246
hg191246
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17377125
Samples
Known GenesKPNA3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5935461
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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