A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15548



Internal ID15830726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:32668795..32669966hg38UCSC Ensembl
Outerchr6:32668381..32680910hg38UCSC Ensembl
Innerchr6:32636572..32637743hg19UCSC Ensembl
Outerchr6:32636158..32648687hg19UCSC Ensembl
Innerchr6:32744550..32745721hg18UCSC Ensembl
Outerchr6:32744136..32756665hg18UCSC Ensembl
Innerchr6:32744550..32745721hg17UCSC Ensembl
Outerchr6:32744136..32756665hg17UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg3812530
hg1912530
hg1812530
hg1712530
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7883
Supporting Variants
SamplesNA12155
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)nssv15548
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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