A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9719



Internal ID15847631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:38769574..38771812hg38UCSC Ensembl
Outerchr19:39260214..39262452hg19UCSC Ensembl
Outerchr19:43952054..43954292hg18UCSC Ensembl
Outerchr19:43952054..43954292hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg382239
hg192239
hg182239
hg172239
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv26576
SamplesNA12155
Known GenesLGALS7
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)nsv9719
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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