A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469766



Internal ID15534481
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrY:24774665..24921080hg38UCSC Ensembl
InnerchrY:26920812..27067227hg19UCSC Ensembl
InnerchrY:25330200..25476615hg18UCSC Ensembl
InnerchrY:25765998..25923261hg16UCSC Ensembl
CytobandYq11.223
Allele length
AssemblyAllele length
hg38146416
hg19146416
hg18146416
hg16157264
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1672570, nssv1674656, nssv1672729, nssv1676509, nssv1672362
Samples
Known GenesDAZ2, DAZ3, DAZ4
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)nsv469766
Frequency
Sample Size265
Observed Gain4
Observed Loss1
Observed Complex0
Frequencyn/a


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