A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv10269



Internal ID15498546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:46752614..46810227hg38UCSC Ensembl
Outerchr3:46794104..46851717hg19UCSC Ensembl
Outerchr3:46769108..46826721hg18UCSC Ensembl
Outerchr3:46769108..46826721hg17UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3857614
hg1957614
hg1857614
hg1757614
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv12044, nssv11669, nssv28669, nssv11862, nssv28795, nssv12630, nssv11491, nssv28629, nssv11961
SamplesNA18502, NA18860, NA19221, NA18853, NA18517, NA19240, NA19144, NA19173
Known Genes
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)nsv10269
Frequency
Sample Size31
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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