A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5418427



Internal ID197595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:76028083..76028134hg38UCSC Ensembl
chr12:76421863..76421914hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17689260
Samples
Known GenesPHLDA1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5418427
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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