A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4764539



Internal ID20540399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:111755141..111755141hg38UCSC Ensembl
chr1:112297763..112297763hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16271170
Samples
Known GenesFAM212B
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4764539
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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