A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5919279



Internal ID22694501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:11421945..11560348hg38UCSC Ensembl
chr12:11574879..11713282hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg38138404
hg19138404
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17363270
Samples
Known GenesLOC338817
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5919279
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