A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512355



Internal ID15851780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:32484057..32485316hg38UCSC Ensembl
Outerchr14:32953263..32954522hg19UCSC Ensembl
Outerchr14:32023014..32024273hg18UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg381260
hg191260
hg181260
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv624940
Samples1
Known GenesAKAP6
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv512355
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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