A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469759



Internal ID15187788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:27980..177346hg38UCSC Ensembl
Innerchr1:27980..177346hg19UCSC Ensembl
Innerchr1:17843..167209hg18UCSC Ensembl
Innerchr1:17843..167209hg16UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg38149367
hg19149367
hg18149367
hg16149367
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1672641, nssv1675415, nssv1672137, nssv1673526, nssv1675248, nssv1672301, nssv1673353, nssv1674201, nssv1675044, nssv1674071, nssv1676217, nssv1675941, nssv1676076, nssv1673181
Samples
Known GenesFAM138A, FAM138F, LOC729737, OR4F5, WASH7P
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)nsv469759
Frequency
Sample Size265
Observed Gain14
Observed Loss0
Observed Complex0
Frequencyn/a


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