A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469570



Internal ID15187599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:143741166..143958691hg38UCSC Ensembl
Innerchr7:143438259..143655784hg19UCSC Ensembl
Innerchr7:143069192..143286717hg18UCSC Ensembl
Innerchr7:142830000..143047525hg16UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38217526
hg19217526
hg18217526
hg16217526
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1672247, nssv1673853, nssv1675468, nssv1676550, nssv1675584, nssv1673881, nssv1675540, nssv1672638, nssv1672823, nssv1675817, nssv1676486, nssv1675267, nssv1675090, nssv1675083, nssv1674238
Samples
Known GenesCTAGE6, FAM115A, LOC154761, OR2F2
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)nsv469570
Frequency
Sample Size265
Observed Gain3
Observed Loss12
Observed Complex0
Frequencyn/a


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