A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512597



Internal ID15505336
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:55092516..55094369hg38UCSC Ensembl
Outerchr19:55603884..55605737hg19UCSC Ensembl
Outerchr19:60295696..60297549hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg381854
hg191854
hg181854
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625208
Samples1
Known GenesPPP1R12C
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv512597
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