A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12210



Internal ID15497385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:151579781..151606649hg38UCSC Ensembl
Outerchr2:151513554..151607130hg38UCSC Ensembl
Innerchr2:152436295..152463163hg19UCSC Ensembl
Outerchr2:152370068..152463644hg19UCSC Ensembl
Innerchr2:152144541..152171409hg18UCSC Ensembl
Outerchr2:152078314..152171890hg18UCSC Ensembl
Innerchr2:152261803..152288671hg17UCSC Ensembl
Outerchr2:152195576..152289152hg17UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg3893577
hg1993577
hg1893577
hg1793577
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10198
Supporting Variants
SamplesNA19221
Known GenesNEB
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)nssv12210
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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