A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5591733



Internal ID21540311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:110252468..110252533hg38UCSC Ensembl
chr13:110904815..110904880hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17096029
SamplesHG00513
Known GenesCOL4A1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5591733
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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