A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13946



Internal ID15494582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31422018..31439594hg38UCSC Ensembl
Outerchr6:31421532..31440224hg38UCSC Ensembl
Innerchr6:31389795..31407371hg19UCSC Ensembl
Outerchr6:31389309..31408001hg19UCSC Ensembl
Innerchr6:31497774..31515350hg18UCSC Ensembl
Outerchr6:31497288..31515980hg18UCSC Ensembl
Innerchr6:31497774..31515350hg17UCSC Ensembl
Outerchr6:31497288..31515980hg17UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg3818693
hg1918693
hg1818693
hg1718693
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10820
Supporting Variants
SamplesNA19007
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)nssv13946
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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