A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5497533



Internal ID274564
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:21424377..21477842hg38UCSC Ensembl
chr12:21577311..21630776hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg3853466
hg1953466
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17053983
Samples
Known GenesPYROXD1, RECQL
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5497533
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer