A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469589



Internal ID15534304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:143521853..143750655hg38UCSC Ensembl
Innerchr7:143218946..143447748hg19UCSC Ensembl
Innerchr7:142929068..143078681hg18UCSC Ensembl
Innerchr7:142689876..142839489hg16UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38228803
hg19228803
hg18149614
hg16149614
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv12n29
Supporting Variantsnssv1674048, nssv1673866, nssv1674630, nssv1672269, nssv1674483, nssv1676487, nssv1673159, nssv1674913, nssv1674480, nssv1676160, nssv1672724, nssv1675943, nssv1673136, nssv1673586, nssv1672541
Samples
Known GenesCTAGE15, EPHA1-AS1, FAM115C
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)nsv469589
Frequency
Sample Size265
Observed Gain14
Observed Loss1
Observed Complex0
Frequencyn/a


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