A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16183



Internal ID15833292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:32575392..32576934hg38UCSC Ensembl
Outerchr6:32574610..32577433hg38UCSC Ensembl
Innerchr6:32543169..32544711hg19UCSC Ensembl
Outerchr6:32542387..32545210hg19UCSC Ensembl
Innerchr6:32651147..32652689hg18UCSC Ensembl
Outerchr6:32650365..32653188hg18UCSC Ensembl
Innerchr6:32651147..32652689hg17UCSC Ensembl
Outerchr6:32650365..32653188hg17UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg382824
hg192824
hg182824
hg172824
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7883
Supporting Variants
SamplesNA18504
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)nssv16183
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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