A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5497058



Internal ID274117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:123093026..123093081hg38UCSC Ensembl
chr12:123577573..123577628hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17690774
Samples
Known GenesPITPNM2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5497058
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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