A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9999



Internal ID15501225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:154339077..154393071hg38UCSC Ensembl
OuterchrX:153567427..153621413hg19UCSC Ensembl
OuterchrX:153220621..153274607hg18UCSC Ensembl
OuterchrX:153088274..153142260hg17UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg3853995
hg1953987
hg1853987
hg1753987
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv27571
SamplesNA12155
Known GenesEMD, FLNA
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)nsv9999
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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