A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4389452



Internal ID21380587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:227294564..227294881hg38UCSC Ensembl
chr1:227482265..227482582hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38318
hg19318
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15704960
Samples
Known GenesCDC42BPA
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceWong_et_al_2019
Pubmed ID31340865
Accession Number(s)nsv4389452
Frequency
Sample Size174
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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