A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9727



Internal ID15847639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:40212406..40214819hg38UCSC Ensembl
Outerchr19:40718313..40720726hg19UCSC Ensembl
Outerchr19:45410153..45412566hg18UCSC Ensembl
Outerchr19:45410153..45412566hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg382414
hg192414
hg182414
hg172414
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv25566
SamplesNA12740
Known GenesMAP3K10
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)nsv9727
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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