A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27820



Internal ID15828127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:94899535..94901126hg38UCSC Ensembl
Outerchr2:94896733..94901856hg38UCSC Ensembl
Innerchr2:95565280..95566871hg19UCSC Ensembl
Outerchr2:95562478..95567601hg19UCSC Ensembl
Innerchr2:94929007..94930598hg18UCSC Ensembl
Outerchr2:94926205..94931328hg18UCSC Ensembl
Innerchr2:94987154..94988745hg17UCSC Ensembl
Outerchr2:94984352..94989475hg17UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg385124
hg195124
hg185124
hg175124
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10090
Supporting Variants
SamplesNA07048
Known GenesLOC442028
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)nssv27820
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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