A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469721



Internal ID15187750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:45316683..45495804hg38UCSC Ensembl
Innerchr15:45608881..45788002hg19UCSC Ensembl
Innerchr15:43396173..43575294hg18UCSC Ensembl
Innerchr15:43324937..43504058hg16UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg38179122
hg19179122
hg18179122
hg16179122
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1673070
Samples
Known GenesC15orf48, GATM, GATM-AS1, MIR147B, SLC30A4, SPATA5L1
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)nsv469721
Frequency
Sample Size265
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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