A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28212



Internal ID15491370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:14803344..15027080hg38UCSC Ensembl
OuterchrX:14730738..15173654hg38UCSC Ensembl
InnerchrX:14821466..15045202hg19UCSC Ensembl
OuterchrX:14748860..15191776hg19UCSC Ensembl
InnerchrX:14731387..14955123hg18UCSC Ensembl
OuterchrX:14658781..15101697hg18UCSC Ensembl
InnerchrX:14581123..14804859hg17UCSC Ensembl
OuterchrX:14508517..14951433hg17UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg38442917
hg19442917
hg18442917
hg17442917
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9934
Supporting Variants
SamplesNA18860
Known GenesFANCB, GLRA2, MOSPD2
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)nssv28212
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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