A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9952



Internal ID15847864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:71702786..71739806hg38UCSC Ensembl
OuterchrX:70922636..70959656hg19UCSC Ensembl
OuterchrX:70839361..70876381hg18UCSC Ensembl
OuterchrX:70705657..70742677hg17UCSC Ensembl
CytobandXq13.1
Allele length
AssemblyAllele length
hg3837021
hg1937021
hg1837021
hg1737021
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv27541
SamplesNA18504
Known GenesBCYRN1, CXorf49, CXorf49B, LINC00891, LOC100132741
MethodOligo aCGH
AnalysisStatistical threshold = 5.0, minimum +/- log2 ratio = 0.25 and minimum number of probes = 2
PlatformAgilent-015686 Custom Human 244K CGH Microarray
Comments
ReferencePerry_et_al_2008
Pubmed ID18304495
Accession Number(s)nsv9952
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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