A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5411866



Internal ID191171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:227280292..227280343hg38UCSC Ensembl
chr1:227467993..227468044hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16898225
Samples
Known GenesCDC42BPA
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5411866
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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