A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv10003



Internal ID15844966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:156016441..156030895hg38UCSC Ensembl
OuterchrX:155246106..155260560hg19UCSC Ensembl
OuterchrX:154899300..154913754hg18UCSC Ensembl
OuterchrX:154809810..154824264hg17UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg3814455
hg1914455
hg1814455
hg1714455
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv26456, nssv28280
SamplesNA18860, NA19007
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)nsv10003
Frequency
Sample Size31
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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