A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17520



Internal ID15843649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:105194581..105195032hg38UCSC Ensembl
Outerchr6:105193926..105199783hg38UCSC Ensembl
Innerchr6:105642456..105642907hg19UCSC Ensembl
Outerchr6:105641801..105647658hg19UCSC Ensembl
Innerchr6:105749149..105749600hg18UCSC Ensembl
Outerchr6:105748494..105754351hg18UCSC Ensembl
Innerchr6:105749149..105749600hg17UCSC Ensembl
Outerchr6:105748494..105754351hg17UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg385858
hg195858
hg185858
hg175858
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7951
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)nssv17520
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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