A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv26719



Internal ID15835247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:87032095..87052427hg38UCSC Ensembl
Outerchr2:87031620..87052918hg38UCSC Ensembl
Innerchr2:87259218..87279550hg19UCSC Ensembl
Outerchr2:87258743..87280041hg19UCSC Ensembl
Innerchr2:87112729..87133061hg18UCSC Ensembl
Outerchr2:87112254..87133552hg18UCSC Ensembl
Innerchr2:87170876..87191208hg17UCSC Ensembl
Outerchr2:87170401..87191699hg17UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg3821299
hg1921299
hg1821299
hg1721299
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10065
Supporting Variants
SamplesNA18552
Known GenesLOC285074
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)nssv26719
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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