A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28228



Internal ID15491385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:119900884..119924201hg38UCSC Ensembl
OuterchrX:119899907..119925214hg38UCSC Ensembl
InnerchrX:119034847..119058164hg19UCSC Ensembl
OuterchrX:119033870..119059177hg19UCSC Ensembl
InnerchrX:118918875..118942192hg18UCSC Ensembl
OuterchrX:118917898..118943205hg18UCSC Ensembl
InnerchrX:118816729..118840046hg17UCSC 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 StatusS
Merged Variantsnsv9969
Supporting Variants
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)nssv28228
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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