A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4763191



Internal ID20539051
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:94074765..94074765hg38UCSC Ensembl
chr11:93807931..93807931hg19UCSC Ensembl
Cytoband11q21
Allele length
AssemblyAllele length
hg381248
hg191248
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16262953
Samples
Known GenesHEPHL1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4763191
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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