A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469765



Internal ID15187794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:2213155..2400446hg38UCSC Ensembl
Innerchr17:2116449..2303740hg19UCSC Ensembl
Innerchr17:2063199..2250490hg18UCSC Ensembl
Innerchr17:2323040..2510331hg16UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38187292
hg19187292
hg18187292
hg16187292
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1675778
Samples
Known GenesMNT, SGSM2, SMG6, SNORD91A, SNORD91B, SRR, TSR1
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)nsv469765
Frequency
Sample Size265
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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