A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14458



Internal ID15496036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31422018..31437819hg38UCSC Ensembl
Outerchr6:31421532..31439594hg38UCSC Ensembl
Innerchr6:31389795..31405596hg19UCSC Ensembl
Outerchr6:31389309..31407371hg19UCSC Ensembl
Innerchr6:31497774..31513575hg18UCSC Ensembl
Outerchr6:31497288..31515350hg18UCSC Ensembl
Innerchr6:31497774..31513575hg17UCSC Ensembl
Outerchr6:31497288..31515350hg17UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg3818063
hg1918063
hg1818063
hg1718063
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10820
Supporting Variants
SamplesNA19144
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)nssv14458
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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