A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28850



Internal ID15839863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:71115687..71120549hg38UCSC Ensembl
Outerchr2:71114936..71121584hg38UCSC Ensembl
Innerchr2:71342817..71347679hg19UCSC Ensembl
Outerchr2:71342066..71348714hg19UCSC Ensembl
Innerchr2:71196325..71201187hg18UCSC Ensembl
Outerchr2:71195574..71202222hg18UCSC Ensembl
Innerchr2:71254472..71259334hg17UCSC Ensembl
Outerchr2:71253721..71260369hg17UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg386649
hg196649
hg186649
hg176649
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10002
Supporting Variants
SamplesNA18972
Known GenesMCEE
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)nssv28850
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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