A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469599



Internal ID15534314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196827346..196986100hg38UCSC Ensembl
Innerchr1:196796476..196955230hg19UCSC Ensembl
Innerchr1:195063099..195221853hg18UCSC Ensembl
Innerchr1:194084735..194243489hg16UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38158755
hg19158755
hg18158755
hg16158755
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1676094, nssv1672969, nssv1673725, nssv1674043, nssv1675123, nssv1676589, nssv1672068, nssv1674775, nssv1674658, nssv1676063, nssv1674786, nssv1674049
Samples
Known GenesCFHR1, CFHR2, CFHR4, CFHR5
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)nsv469599
Frequency
Sample Size265
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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