A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5597465



Internal ID21546079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:48567803..48568037hg38UCSC Ensembl
chr13:49141939..49142173hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg38235
hg19235
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17091128
SamplesNA19983
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5597465
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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