A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9652



Internal ID15847564
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:266988..275953hg38UCSC Ensembl
Outerchr19:266988..275953hg19UCSC Ensembl
Outerchr19:217988..226953hg18UCSC Ensembl
Outerchr19:217988..226953hg17UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg388966
hg198966
hg188966
hg178966
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv25101, nssv27235
SamplesNA18980, NA19132
Known Genes
MethodOligo aCGH
AnalysisStatistical threshold = 5.0, minimum +/- log2 ratio = 0.25 and minimum number of probes = 2
PlatformAgilent-015686 Custom Human 244K CGH Microarray
Comments
ReferencePerry_et_al_2008
Pubmed ID18304495
Accession Number(s)nsv9652
Frequency
Sample Size31
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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