A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5418702



Internal ID197864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:27122316..27122367hg38UCSC Ensembl
chr13:27696453..27696504hg19UCSC Ensembl
Cytoband13q12.13
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 Variantsnssv17686402
Samples
Known GenesUSP12
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5418702
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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