A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28186



Internal ID15482579
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:131270653..131276193hg38UCSC Ensembl
Outerchr2:131267012..131277013hg38UCSC Ensembl
Innerchr2:132028226..132033766hg19UCSC Ensembl
Outerchr2:132024585..132034586hg19UCSC Ensembl
Innerchr2:131744696..131750236hg18UCSC Ensembl
Outerchr2:131741055..131751056hg18UCSC Ensembl
Innerchr2:131861958..131867498hg17UCSC Ensembl
Outerchr2:131858317..131868318hg17UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg3810002
hg1910002
hg1810002
hg1710002
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10180
Supporting Variants
SamplesNA10863
Known Genes
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)nssv28186
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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