A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4746179



Internal ID20522190
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:49800145..49800197hg38UCSC Ensembl
chr18:47326515..47326567hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16284029
Samples
Known GenesACAA2
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4746179
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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