A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15218



Internal ID15830543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31270843..31272185hg38UCSC Ensembl
Outerchr6:31270175..31272548hg38UCSC Ensembl
Innerchr6:31238620..31239962hg19UCSC Ensembl
Outerchr6:31237952..31240325hg19UCSC Ensembl
Innerchr6:31346599..31347941hg18UCSC Ensembl
Outerchr6:31345931..31348304hg18UCSC Ensembl
Innerchr6:31346599..31347941hg17UCSC Ensembl
Outerchr6:31345931..31348304hg17UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg382374
hg192374
hg182374
hg172374
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10815
Supporting Variants
SamplesNA12155
Known GenesHLA-C
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)nssv15218
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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