A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5982182



Internal ID21891525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:175183320..175195218hg38UCSC Ensembl
chr1:175152456..175164354hg19UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg3811899
hg1911899
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17536422
Samples
Known GenesKIAA0040
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5982182
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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