A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv912252



Internal ID6274179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:49535024..49640002hg19UCSC Ensembl
Outerchr19:49524220..49640294hg19UCSC Ensembl
Innerchr19:54226836..54331814hg18UCSC Ensembl
Outerchr19:54216032..54332106hg18UCSC 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 Variantsnssv1549992
SamplesMS18276
Known GenesC19orf73, CGB, CGB1, CGB2, CGB5, CGB7, CGB8, KCNA7, LIN7B, NTF4, PPFIA3, SNAR-G1, SNAR-G2, SNRNP70
Method
Analysis
PlatformIllumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3
Comments
ReferenceXu_et_al_2011
Pubmed ID21882294
Accession Number(s)nsv912252
Frequency
Sample Size6533
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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