A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5429148



Internal ID208001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:41453906..41453906hg38UCSC Ensembl
chr12:41847708..41847708hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38240
hg19240
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17056683
Samples
Known GenesPDZRN4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5429148
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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