A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28505



Internal ID15829461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:241815925..241817376hg38UCSC Ensembl
Outerchr2:241815631..241817615hg38UCSC Ensembl
Innerchr2:242757251..242758702hg19UCSC Ensembl
Outerchr2:242756957..242758942hg19UCSC Ensembl
Innerchr2:242405924..242407375hg18UCSC Ensembl
Outerchr2:242405630..242407615hg18UCSC Ensembl
Innerchr2:242477241..242478692hg17UCSC Ensembl
Outerchr2:242476947..242478932hg17UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg381985
hg191986
hg181986
hg171986
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10232
Supporting Variants
SamplesNA10863
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)nssv28505
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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