A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17001



Internal ID15838453
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:170295727..170296893hg38UCSC Ensembl
Outerchr6:170295082..170297517hg38UCSC Ensembl
Innerchr6:170604815..170605981hg19UCSC Ensembl
Outerchr6:170604170..170606605hg19UCSC Ensembl
Innerchr6:170446740..170447906hg18UCSC Ensembl
Outerchr6:170446095..170448530hg18UCSC Ensembl
Innerchr6:170522447..170523613hg17UCSC Ensembl
Outerchr6:170521802..170524237hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg382436
hg192436
hg182436
hg172436
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8015
Supporting Variants
SamplesNA18860
Known GenesFAM120B
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)nssv17001
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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