A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9997



Internal ID15847909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:153065436..153080017hg38UCSC Ensembl
OuterchrX:152233802..152248527hg19UCSC Ensembl
OuterchrX:151984459..152088093hg18UCSC Ensembl
OuterchrX:151904371..151919096hg17UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg3814582
hg1914726
hg18103635
hg1714726
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv23831
SamplesNA18572
Known GenesPNMA6A, PNMA6C
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)nsv9997
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer