A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4746316



Internal ID20522328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:40879698..40879750hg38UCSC Ensembl
chr13:41453834..41453886hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16287154
Samples
Known GenesTPTE2P5
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4746316
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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