A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5942740



Internal ID22718182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:29130968..29134045hg38UCSC Ensembl
chr13:29705105..29708182hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg383078
hg193078
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17381256
Samples
Known GenesMTUS2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5942740
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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