A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469881



Internal ID15187910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:1426471..1613783hg38UCSC Ensembl
Innerchr8:1374637..1561949hg19UCSC Ensembl
Innerchr8:1362044..1549356hg18UCSC Ensembl
Innerchr8:1362044..1549356hg16UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg38187313
hg19187313
hg18187313
hg16187313
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1674584, nssv1675005, nssv1675511, nssv1672985, nssv1675797, nssv1673727, nssv1674899, nssv1675674, nssv1673858, nssv1674911, nssv1674324, nssv1674076, nssv1673648, nssv1675010, nssv1675064, nssv1674030, nssv1672235, nssv1675348, nssv1672595, nssv1674880
Samples
Known GenesDLGAP2, LOC100507435
MethodBAC aCGH
AnalysisA locus was considered a CNV if the log ratio of fluorescence measurements for the individuals assayed exceeded twice the SD of the autosomal clones in both dye-swapped experiments.
PlatformGPL4010
Comments
ReferenceLocke_et_al_2006
Pubmed ID16826518
Accession Number(s)nsv469881
Frequency
Sample Size265
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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