A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9969



Internal ID15501195
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:119899907..119925214hg38UCSC Ensembl
OuterchrX:119033870..119059177hg19UCSC Ensembl
OuterchrX:118917898..118943205hg18UCSC Ensembl
OuterchrX:118815752..118841059hg17UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg3825308
hg1925308
hg1825308
hg1725308
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv28228
SamplesNA18860
Known GenesAKAP14, NKAP
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)nsv9969
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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