A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16284029



Internal ID20493247
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 StatusS
Merged Variantsnsv4746179
Supporting Variants
Samples
Known GenesACAA2
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16284029
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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