A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28989



Internal ID15486230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:131254209..131260965hg38UCSC Ensembl
Outerchr2:131254208..131261045hg38UCSC Ensembl
Innerchr2:132011782..132018538hg19UCSC Ensembl
Outerchr2:132011781..132018618hg19UCSC Ensembl
Innerchr2:131728252..131735008hg18UCSC Ensembl
Outerchr2:131728251..131735088hg18UCSC Ensembl
Innerchr2:131845514..131852270hg17UCSC Ensembl
Outerchr2:131845513..131852350hg17UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg386838
hg196838
hg186838
hg176838
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10180
Supporting Variants
SamplesNA18502
Known GenesPOTEE
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)nssv28989
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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