A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv17n29



Internal ID20133234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:47976492..48213935hg38UCSC Ensembl
chrX:47835891..48073370hg19UCSC Ensembl
chrX:47720835..47958314hg18UCSC Ensembl
chrX:46881873..47119352hg16UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg38237444
hg19237480
hg18237480
hg16237480
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv469869, nsv469888
Samples
Known GenesSPACA5, SPACA5B, SSX5, SSX6, ZNF182, ZNF630
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)dgv17n29
Frequency
Sample Size265
Observed Gain3
Observed Loss2
Observed Complex0
Frequencyn/a


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