A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28951



Internal ID15828433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:241817617..241821916hg38UCSC Ensembl
Outerchr2:241817376..241823924hg38UCSC Ensembl
Innerchr2:242758942..242764101hg19UCSC Ensembl
Outerchr2:242758702..242766103hg19UCSC Ensembl
Innerchr2:242407615..242412774hg18UCSC Ensembl
Outerchr2:242407375..242414776hg18UCSC Ensembl
Innerchr2:242478932..242484091hg17UCSC Ensembl
Outerchr2:242478692..242486093hg17UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg386549
hg197402
hg187402
hg177402
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10232
Supporting Variants
SamplesNA10839
Known GenesNEU4
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)nssv28951
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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