A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5982612



Internal ID21891955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:227294563..227294881hg38UCSC Ensembl
chr1:227482264..227482582hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38319
hg19319
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17533114
Samples
Known GenesCDC42BPA
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5982612
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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