A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv25247



Internal ID15487789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:30098422..30103952hg38UCSC Ensembl
Outerchr15:30097840..30105132hg38UCSC Ensembl
Innerchr15:30390625..30396155hg19UCSC Ensembl
Outerchr15:30390043..30397335hg19UCSC Ensembl
Innerchr15:28177917..28183447hg18UCSC Ensembl
Outerchr15:28177335..28184627hg18UCSC Ensembl
Innerchr15:28177917..28183447hg17UCSC Ensembl
Outerchr15:28177335..28184627hg17UCSC Ensembl
Cytoband15q13.2
Allele length
AssemblyAllele length
hg387293
hg197293
hg187293
hg177293
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9232
Supporting Variants
SamplesNA18517
Known GenesULK4P1, ULK4P2, ULK4P3
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)nssv25247
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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