A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv25946



Internal ID15829247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:37730283..37772420hg38UCSC Ensembl
Outerchr2:37729774..37772939hg38UCSC Ensembl
Innerchr2:37957426..37999563hg19UCSC Ensembl
Outerchr2:37956917..38000082hg19UCSC Ensembl
Innerchr2:37810930..37853067hg18UCSC Ensembl
Outerchr2:37810421..37853586hg18UCSC Ensembl
Innerchr2:37869077..37911214hg17UCSC Ensembl
Outerchr2:37868568..37911733hg17UCSC Ensembl
Cytoband2p22.2
Allele length
AssemblyAllele length
hg3843166
hg1943166
hg1843166
hg1743166
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9624
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)nssv25946
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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