A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5590749



Internal ID21539319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:40900680..40900806hg38UCSC Ensembl
chr13:41474816..41474942hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38127
hg19127
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17081064
SamplesHG03065
Known GenesTPTE2P5
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5590749
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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