A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12090



Internal ID15843826
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:132252891..132289446hg38UCSC Ensembl
Outerchr2:132252417..132290301hg38UCSC Ensembl
Innerchr2:133010464..133047019hg19UCSC Ensembl
Outerchr2:133009990..133047874hg19UCSC Ensembl
Innerchr2:132726934..132763489hg18UCSC Ensembl
Outerchr2:132726460..132764344hg18UCSC Ensembl
Innerchr2:132844196..132880751hg17UCSC Ensembl
Outerchr2:132843722..132881606hg17UCSC Ensembl
Cytoband2q21.2
Allele length
AssemblyAllele length
hg3837885
hg1937885
hg1837885
hg1737885
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10191
Supporting Variants
SamplesNA19221
Known GenesANKRD30BL, MIR663B
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)nssv12090
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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