A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469512



Internal ID15187541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:39107672..39256167hg38UCSC Ensembl
Innerchr9:39107669..39256164hg19UCSC Ensembl
Innerchr9:39097669..39246164hg18UCSC Ensembl
Innerchr9:39097669..39246164hg16UCSC Ensembl
Cytoband9p13.1
Allele length
AssemblyAllele length
hg38148496
hg19148496
hg18148496
hg16148496
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1673741, nssv1676356, nssv1675681, nssv1676214, nssv1674760, nssv1676134, nssv1675045, nssv1674465, nssv1675185, nssv1673194, nssv1672266, nssv1675429, nssv1673067, nssv1674820, nssv1673738, nssv1676611, nssv1676499, nssv1674683, nssv1676385, nssv1673291, nssv1672869, nssv1676479
Samples
Known GenesCNTNAP3
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)nsv469512
Frequency
Sample Size265
Observed Gain22
Observed Loss0
Observed Complex0
Frequencyn/a


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