A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9734



Internal ID15847646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:44388599..44435840hg38UCSC Ensembl
Outerchr19:44892761..44940023hg19UCSC Ensembl
Outerchr19:49584601..49631863hg18UCSC Ensembl
Outerchr19:49584601..49631863hg17UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg3847242
hg1947263
hg1847263
hg1747263
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv27787, nssv25232
SamplesNA18860, NA19007
Known GenesZNF229, ZNF285
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)nsv9734
Frequency
Sample Size31
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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