A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv912219



Internal ID6274146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:48884949..49014091hg19UCSC Ensembl
Outerchr19:48876190..49020315hg19UCSC Ensembl
Innerchr19:53576761..53705903hg18UCSC Ensembl
Outerchr19:53568002..53712127hg18UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv1586086
SamplesIS37646
Known GenesCYTH2, GRIN2D, GRWD1, KCNJ14, KDELR1, LMTK3, SYNGR4
Method
Analysis
PlatformIllumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3
Comments
ReferenceXu_et_al_2011
Pubmed ID21882294
Accession Number(s)nsv912219
Frequency
Sample Size6533
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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