A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469581



Internal ID15534296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25016919..25176892hg38UCSC Ensembl
Innerchr22:25412886..25572859hg19UCSC Ensembl
Innerchr22:23742886..23902859hg18UCSC Ensembl
Innerchr22:23737440..23897413hg16UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38159974
hg19159974
hg18159974
hg16159974
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1672906, nssv1676660, nssv1672458, nssv1672882, nssv1674743, nssv1673311, nssv1673084, nssv1674131, nssv1673533, nssv1674566
Samples
Known GenesKIAA1671, LOC100128531
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)nsv469581
Frequency
Sample Size265
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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