A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5982838



Internal ID21892181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:226978153..226978954hg38UCSC Ensembl
chr1:227165854..227166655hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38802
hg19802
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17525277
Samples
Known GenesADCK3
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5982838
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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