A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv912251



Internal ID6274178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:49510089..49584288hg19UCSC Ensembl
Outerchr19:49507578..49587625hg19UCSC Ensembl
Innerchr19:54201901..54276100hg18UCSC Ensembl
Outerchr19:54199390..54279437hg18UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv1510373
SamplesSP54956
Known GenesCGB, CGB1, CGB2, CGB5, CGB7, CGB8, KCNA7, LHB, NTF4, RUVBL2, SNAR-G1, SNAR-G2
Method
Analysis
PlatformIllumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3
Comments
ReferenceXu_et_al_2011
Pubmed ID21882294
Accession Number(s)nsv912251
Frequency
Sample Size6533
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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