A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28099



Internal ID15837073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:132255826..132288993hg38UCSC Ensembl
Outerchr2:132255455..132289446hg38UCSC Ensembl
Innerchr2:133013399..133046566hg19UCSC Ensembl
Outerchr2:133013028..133047019hg19UCSC Ensembl
Innerchr2:132729869..132763036hg18UCSC Ensembl
Outerchr2:132729498..132763489hg18UCSC Ensembl
Innerchr2:132847131..132880298hg17UCSC Ensembl
Outerchr2:132846760..132880751hg17UCSC Ensembl
Cytoband2q21.2
Allele length
AssemblyAllele length
hg3833992
hg1933992
hg1833992
hg1733992
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10191
Supporting Variants
SamplesNA18572
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)nssv28099
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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