A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5595433



Internal ID21544038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:77597135..77598049hg38UCSC Ensembl
chr13:78171270..78172184hg19UCSC Ensembl
Cytoband13q22.3
Allele length
AssemblyAllele length
hg38915
hg19915
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17087640
SamplesNA19238
Known GenesSCEL
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5595433
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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