A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5498587



Internal ID275577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:121841846..121843005hg38UCSC Ensembl
chr12:122279752..122280911hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg381160
hg191160
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17685032
Samples
Known GenesHPD
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5498587
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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