A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5935527



Internal ID22710870
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:101634483..101634591hg38UCSC Ensembl
chr12:102028261..102028369hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg38109
hg19109
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17366594
Samples
Known GenesMYBPC1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5935527
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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