A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27971



Internal ID15838603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:64173709..64176426hg38UCSC Ensembl
Outerchr20:64173106..64176502hg38UCSC Ensembl
Innerchr20:62805062..62807779hg19UCSC Ensembl
Outerchr20:62804459..62807855hg19UCSC Ensembl
Innerchr20:62275506..62278223hg18UCSC Ensembl
Outerchr20:62274903..62278299hg18UCSC Ensembl
Innerchr20:62275506..62278223hg17UCSC Ensembl
Outerchr20:62274903..62278299hg17UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg383397
hg193397
hg183397
hg173397
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9833
Supporting Variants
SamplesNA18860
Known GenesMYT1
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)nssv27971
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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