A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3113597



Internal ID21296863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:30273545..30279054hg38UCSC Ensembl
Innerchr13:30847682..30853191hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg385510
hg195510
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14095681
Samplessample190
Known GenesKATNAL1
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3113597
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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