A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5940977



Internal ID22716393
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:59951288..60056919hg38UCSC Ensembl
chr13:60525422..60631053hg19UCSC Ensembl
Cytoband13q21.2
Allele length
AssemblyAllele length
hg38105632
hg19105632
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17374800
Samples
Known GenesDIAPH3, DIAPH3-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5940977
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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