A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv10319



Internal ID15498596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:128607714..128619989hg38UCSC Ensembl
Outerchr3:128326557..128338832hg19UCSC Ensembl
Outerchr3:129809247..129821522hg18UCSC Ensembl
Outerchr3:129809255..129821530hg17UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg3812276
hg1912276
hg1812276
hg1712276
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv12870
SamplesNA19221
Known GenesRPN1
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)nsv10319
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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