A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv10253



Internal ID15845216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:16196908..16203242hg38UCSC Ensembl
Outerchr3:16238415..16244749hg19UCSC Ensembl
Outerchr3:16213419..16219753hg18UCSC Ensembl
Outerchr3:16213419..16219753hg17UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg386335
hg196335
hg186335
hg176335
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv11953, nssv28823, nssv28691, nssv12683
SamplesNA07029, NA18504, NA19007, NA18972
Known GenesGALNT15
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)nsv10253
Frequency
Sample Size31
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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