A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5930808



Internal ID22706081
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:124935429..124936157hg38UCSC Ensembl
chr12:125419975..125420703hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38729
hg19729
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17367966
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5930808
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