A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14126



Internal ID15841290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:32577433..32577924hg38UCSC Ensembl
Outerchr6:32576934..32578291hg38UCSC Ensembl
Innerchr6:32545210..32545701hg19UCSC Ensembl
Outerchr6:32544711..32546068hg19UCSC Ensembl
Innerchr6:32653188..32653679hg18UCSC Ensembl
Outerchr6:32652689..32654046hg18UCSC Ensembl
Innerchr6:32653188..32653679hg17UCSC Ensembl
Outerchr6:32652689..32654046hg17UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg381358
hg191358
hg181358
hg171358
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7883
Supporting Variants
SamplesNA19007
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)nssv14126
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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