A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5424642



Internal ID203624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:53465679..53465730hg38UCSC Ensembl
chr12:53859463..53859514hg19UCSC Ensembl
Cytoband12q13.13
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 Variantsnssv17058677
Samples
Known GenesPCBP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5424642
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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