A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5435018



Internal ID213678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:227220859..227393605hg38UCSC Ensembl
chr1:227408560..227581306hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38172747
hg19172747
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16898214
Samples
Known GenesCDC42BPA
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5435018
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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