A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469691



Internal ID15187720
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25457547..25622123hg38UCSC Ensembl
Innerchr22:25853514..26018090hg19UCSC Ensembl
Innerchr22:24183514..24348090hg18UCSC Ensembl
Innerchr22:24178068..24342644hg16UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38164577
hg19164577
hg18164577
hg16164577
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1673629, nssv1674918, nssv1675257, nssv1674491, nssv1672231, nssv1676393, nssv1673166, nssv1673033
Samples
Known GenesADRBK2, CRYBB2P1
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)nsv469691
Frequency
Sample Size265
Observed Gain4
Observed Loss4
Observed Complex0
Frequencyn/a


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