A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469545



Internal ID15534260
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21335906..21541940hg38UCSC Ensembl
Innerchr22:21690195..21896229hg19UCSC Ensembl
Innerchr22:20020195..20226229hg18UCSC Ensembl
Innerchr22:20014749..20220783hg16UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38206035
hg19206035
hg18206035
hg16206035
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1673330, nssv1673560, nssv1675513, nssv1673818, nssv1675735, nssv1675877, nssv1672154, nssv1674687, nssv1674666, nssv1673368, nssv1672303, nssv1673009, nssv1674972, nssv1675294, nssv1672810, nssv1675607, nssv1673844, nssv1674661, nssv1675697, nssv1674217, nssv1674208, nssv1674648, nssv1675186, nssv1673106, nssv1675336, nssv1674275, nssv1673928, nssv1673620, nssv1674873, nssv1676388, nssv1674853, nssv1672916, nssv1672218, nssv1672574, nssv1673184, nssv1672856, nssv1674816, nssv1675749, nssv1676232, nssv1674735, nssv1672436, nssv1673755, nssv1673282, nssv1673735
Samples
Known GenesHIC2, PI4KAP2, RIMBP3B, RIMBP3C, TMEM191C
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)nsv469545
Frequency
Sample Size265
Observed Gain44
Observed Loss0
Observed Complex0
Frequencyn/a


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