A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv23469



Internal ID15836890
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:67908666..67908974hg38UCSC Ensembl
OuterchrX:67878852..67909314hg38UCSC Ensembl
InnerchrX:67128508..67128816hg19UCSC Ensembl
OuterchrX:67098694..67129156hg19UCSC Ensembl
InnerchrX:67045233..67045541hg18UCSC Ensembl
OuterchrX:67015419..67045881hg18UCSC Ensembl
InnerchrX:66911529..66911837hg17UCSC Ensembl
OuterchrX:66881715..66912177hg17UCSC Ensembl
CytobandXq12
Allele length
AssemblyAllele length
hg3830463
hg1930463
hg1830463
hg1730463
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9950
Supporting Variants
SamplesNA18572
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)nssv23469
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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