A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5647874



Internal ID21596179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:117926048..117926048hg38UCSC Ensembl
chr11:117796763..117796763hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg38638
hg19638
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17072748, nssv17072747
SamplesHG03125, NA19239
Known GenesTMPRSS13
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5647874
Frequency
Sample Size35
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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