A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15704960



Internal ID21377236
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 StatusS
Merged Variantsnsv4389452
Supporting Variants
Samples
Known GenesCDC42BPA
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceWong_et_al_2019
Pubmed ID31340865
Accession Number(s)nssv15704960
Frequency
Sample Size174
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.393678


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