A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469553



Internal ID15534268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12340180..12497385hg38UCSC Ensembl
Innerchr8:12197689..12354894hg19UCSC Ensembl
Innerchr8:12242060..12399265hg18UCSC Ensembl
Innerchr8:12208055..12365260hg16UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38157206
hg19157206
hg18157206
hg16157206
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1675053, nssv1676614, nssv1673485, nssv1676151, nssv1672134, nssv1675609, nssv1674259, nssv1673582, nssv1673809, nssv1673606, nssv1676438, nssv1672184, nssv1672922, nssv1676539, nssv1673068, nssv1672275, nssv1673614, nssv1675205, nssv1676353, nssv1673152, nssv1674315, nssv1675535, nssv1676382, nssv1676635, nssv1674679, nssv1676277, nssv1676221
Samples
Known GenesDEFB109P1, FAM66A, FAM86B2, FAM90A25P, LOC100506990, LOC649352
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)nsv469553
Frequency
Sample Size265
Observed Gain0
Observed Loss27
Observed Complex0
Frequencyn/a


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