A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9972



Internal ID15501198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:120871270..120995597hg38UCSC Ensembl
OuterchrX:120005124..120129451hg19UCSC Ensembl
OuterchrX:119889152..119957132hg18UCSC Ensembl
OuterchrX:119787006..119854986hg17UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg38124328
hg19124328
hg1867981
hg1767981
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv27485, nssv23581, nssv27597, nssv26351, nssv26627, nssv26640, nssv27589, nssv26003
SamplesNA18504, NA12155, NA19007, NA18572, NA18853, NA19173
Known GenesCT47A1, CT47A10, CT47A11, CT47A12, CT47A2, CT47A3, CT47A4, CT47A5, CT47A6, CT47A7, CT47A8, CT47A9, CT47B1
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)nsv9972
Frequency
Sample Size31
Observed Gain2
Observed Loss4
Observed Complex0
Frequencyn/a


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