A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469613



Internal ID15187642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:9390752..9541108hg38UCSC Ensembl
InnerchrX:9358792..9509148hg19UCSC Ensembl
InnerchrX:9318792..9469148hg18UCSC Ensembl
InnerchrX:8770297..8920653hg16UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg38150357
hg19150357
hg18150357
hg16150357
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1673800, nssv1673958, nssv1676285, nssv1674981, nssv1675411, nssv1673075, nssv1675840
Samples
Known GenesTBL1X
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)nsv469613
Frequency
Sample Size265
Observed Gain2
Observed Loss5
Observed Complex0
Frequencyn/a


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