A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5535791



Internal ID311380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:117075955..117075955hg38UCSC Ensembl
chr12:117513760..117513760hg19UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg38110
hg19110
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17684728
Samples
Known GenesTESC
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5535791
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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