A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv29191



Internal ID15828796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:97479099..97483180hg38UCSC Ensembl
Outerchr3:97363136..97487018hg38UCSC Ensembl
Innerchr3:97197943..97202024hg19UCSC Ensembl
Outerchr3:97081980..97205862hg19UCSC Ensembl
Innerchr3:98680633..98684714hg18UCSC Ensembl
Outerchr3:98564670..98688552hg18UCSC Ensembl
Innerchr3:98680633..98684714hg17UCSC Ensembl
Outerchr3:98564670..98688552hg17UCSC Ensembl
Cytoband3q11.2
Allele length
AssemblyAllele length
hg38123883
hg19123883
hg18123883
hg17123883
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10292
Supporting Variants
SamplesNA10839
Known GenesEPHA6
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)nssv29191
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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