A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469813



Internal ID15187842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:37628200..37777281hg38UCSC Ensembl
Innerchr9:37628197..37777278hg19UCSC Ensembl
Innerchr9:37618197..37767278hg18UCSC Ensembl
Innerchr9:37618197..37767278hg16UCSC Ensembl
Cytoband9p13.2
Allele length
AssemblyAllele length
hg38149082
hg19149082
hg18149082
hg16149082
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1672288
Samples
Known GenesFRMPD1, TRMT10B
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)nsv469813
Frequency
Sample Size265
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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