A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5920698



Internal ID22695921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:78525196..78659626hg38UCSC Ensembl
chr11:78236242..78370671hg19UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg38134431
hg19134430
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17367408
Samples
Known GenesNARS2, TENM4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5920698
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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