A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4764117



Internal ID20539977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:54571042..54571042hg38UCSC Ensembl
chr16:54604954..54604954hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16265773
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4764117
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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