A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17533114



Internal ID21857470
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 StatusS
Merged Variantsnsv5982612
Supporting Variants
Samples
Known GenesCDC42BPA
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17533114
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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