A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv912221



Internal ID6274148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:48943921..48969879hg19UCSC Ensembl
Outerchr19:48936806..48972429hg19UCSC Ensembl
Innerchr19:53635733..53661691hg18UCSC Ensembl
Outerchr19:53628618..53664241hg18UCSC 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 Variantsnssv1511609
SamplesSP55021
Known GenesGRIN2D, GRWD1, KCNJ14
Method
Analysis
PlatformIllumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3
Comments
ReferenceXu_et_al_2011
Pubmed ID21882294
Accession Number(s)nsv912221
Frequency
Sample Size6533
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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