A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8483



Internal ID15846395
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:40133821..40202967hg38UCSC Ensembl
Outerchr9:43153944..45413070hg19UCSC Ensembl
Outerchr9:43143940..45303066hg18UCSC Ensembl
Outerchr9:45429117..45498263hg17UCSC Ensembl
Cytoband9p11.2
Allele length
AssemblyAllele length
hg3869147
hg192259127
hg182159127
hg1769147
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv20352, nssv17956, nssv19708, nssv17900, nssv21383, nssv18689, nssv21134, nssv21237
SamplesNA18502, NA18853, NA19132, NA18517, NA19144, NA19173, NA18972, NA18552
Known GenesCNTNAP3B, FAM27C, LOC643648, SPATA31A6
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)nsv8483
Frequency
Sample Size31
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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