A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv25972



Internal ID15481388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:141692606..141692607hg38UCSC Ensembl
OuterchrX:141691687..141693005hg38UCSC Ensembl
InnerchrX:140780763..140780764hg19UCSC Ensembl
OuterchrX:140779844..140781162hg19UCSC Ensembl
InnerchrX:140608429..140608430hg18UCSC Ensembl
OuterchrX:140607510..140608828hg18UCSC Ensembl
InnerchrX:140506283..140506284hg17UCSC Ensembl
OuterchrX:140505364..140506682hg17UCSC Ensembl
CytobandXq27.2
Allele length
AssemblyAllele length
hg381319
hg191319
hg181319
hg171319
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9984
Supporting Variants
SamplesNA07048
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)nssv25972
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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