A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27848



Internal ID15497851
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:38218425..38729662hg38UCSC Ensembl
Outerchr2:38131169..38855047hg38UCSC Ensembl
Innerchr2:38445567..38956804hg19UCSC Ensembl
Outerchr2:38358311..39082189hg19UCSC Ensembl
Innerchr2:38299071..38810308hg18UCSC Ensembl
Outerchr2:38211815..38935693hg18UCSC Ensembl
Innerchr2:38357218..38868455hg17UCSC Ensembl
Outerchr2:38269962..38993840hg17UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg38723879
hg19723879
hg18723879
hg17723879
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9646
Supporting Variants
SamplesNA19240
Known GenesATL2, CYP1B1-AS1, DHX57, GALM, GEMIN6, HNRNPLL, SRSF7
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)nssv27848
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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