A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15349



Internal ID15836948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:374445..376753hg38UCSC Ensembl
Outerchr8:373588..377286hg38UCSC Ensembl
Innerchr8:324445..326753hg19UCSC Ensembl
Outerchr8:323588..327286hg19UCSC Ensembl
Innerchr8:314445..316753hg18UCSC Ensembl
Outerchr8:313588..317286hg18UCSC Ensembl
Innerchr8:314445..316753hg17UCSC Ensembl
Outerchr8:313588..317286hg17UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg383699
hg193699
hg183699
hg173699
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8256
Supporting Variants
SamplesNA18572
Known GenesFAM87A
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)nssv15349
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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