A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469810



Internal ID15187839
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196700380..196847241hg38UCSC Ensembl
Innerchr1:196669510..196816371hg19UCSC Ensembl
Innerchr1:194936133..195082994hg18UCSC Ensembl
Innerchr1:193957769..194104630hg16UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38146862
hg19146862
hg18146862
hg16146862
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1676632, nssv1672294, nssv1672974
Samples
Known GenesCFH, CFHR1, CFHR3
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)nsv469810
Frequency
Sample Size265
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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