A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9947



Internal ID15847859
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:57609350..57676871hg38UCSC Ensembl
OuterchrX:57635783..57703304hg19UCSC Ensembl
OuterchrX:57652508..57720029hg18UCSC Ensembl
OuterchrX:57518804..57586325hg17UCSC Ensembl
CytobandXp11.1
Allele length
AssemblyAllele length
hg3867522
hg1967522
hg1867522
hg1767522
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv23179
SamplesNA12872
Known Genes
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)nsv9947
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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