A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4750100



Internal ID20526135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:69659835..69659892hg38UCSC Ensembl
chr18:67327071..67327128hg19UCSC Ensembl
Cytoband18q22.2
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16269154
Samples
Known GenesDOK6
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4750100
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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