A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1676393



Internal ID15187215
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 loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv469691
Supporting Variants
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)nssv1676393
Frequency
Sample Size265
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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