A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17040



Internal ID15844121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:32569429..32575392hg38UCSC Ensembl
Outerchr6:32568705..32576934hg38UCSC Ensembl
Innerchr6:32537206..32543169hg19UCSC Ensembl
Outerchr6:32536482..32544711hg19UCSC Ensembl
Innerchr6:32645184..32651147hg18UCSC Ensembl
Outerchr6:32644460..32652689hg18UCSC Ensembl
Innerchr6:32645184..32651147hg17UCSC Ensembl
Outerchr6:32644460..32652689hg17UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg388230
hg198230
hg188230
hg178230
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7883
Supporting Variants
SamplesNA19221
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)nssv17040
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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