A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4746594



Internal ID20522608
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:48474957..48477419hg38UCSC Ensembl
chr16:48508868..48511330hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg382463
hg192463
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16281036
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4746594
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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