A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15539



Internal ID15843402
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:170671503..170671503hg38UCSC Ensembl
Outerchr6:170670396..170671618hg38UCSC Ensembl
Innerchr6:170980591..170980591hg19UCSC Ensembl
Outerchr6:170979484..170980706hg19UCSC Ensembl
Innerchr6:170822516..170822516hg18UCSC Ensembl
Outerchr6:170821409..170822631hg18UCSC Ensembl
Innerchr6:170898223..170898223hg17UCSC Ensembl
Outerchr6:170897116..170898338hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg381223
hg191223
hg181223
hg171223
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8022
Supporting Variants
SamplesNA19173
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)nssv15539
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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