A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27563



Internal ID15830737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:149932946..149941101hg38UCSC Ensembl
OuterchrX:149932458..149941317hg38UCSC Ensembl
InnerchrX:149101164..149109319hg19UCSC Ensembl
OuterchrX:149100676..149109535hg19UCSC Ensembl
InnerchrX:148851822..148859977hg18UCSC Ensembl
OuterchrX:148851334..148860193hg18UCSC Ensembl
InnerchrX:148771732..148779887hg17UCSC Ensembl
OuterchrX:148771244..148780103hg17UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg388860
hg198860
hg188860
hg178860
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9996
Supporting Variants
SamplesNA12155
Known GenesCXorf40B, LINC00894
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)nssv27563
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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