A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469577



Internal ID15534292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:971392..1195577hg38UCSC Ensembl
Innerchr5:971507..1195692hg19UCSC Ensembl
Innerchr5:1024507..1248692hg18UCSC Ensembl
Innerchr5:1024245..1248430hg16UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38224186
hg19224186
hg18224186
hg16224186
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1672923, nssv1674822, nssv1673307, nssv1676291, nssv1674286
Samples
Known GenesLOC100506688, MIR4635, NKD2, SLC12A7
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)nsv469577
Frequency
Sample Size265
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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