A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469584



Internal ID15187613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:51498127..51648568hg38UCSC Ensembl
Innerchr19:52001381..52151821hg19UCSC Ensembl
Innerchr19:56693193..56843633hg18UCSC Ensembl
Innerchr19:56693193..56843633hg16UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38150442
hg19150441
hg18150441
hg16150441
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1674551
Samples
Known GenesFLJ30403, SIGLEC12, SIGLEC14, SIGLEC5, SIGLEC6, ZNF175
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)nsv469584
Frequency
Sample Size265
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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