A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28386



Internal ID15830043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:132255826..132276601hg38UCSC Ensembl
Outerchr2:132255455..132277319hg38UCSC Ensembl
Innerchr2:133013399..133034174hg19UCSC Ensembl
Outerchr2:133013028..133034892hg19UCSC Ensembl
Innerchr2:132729869..132750644hg18UCSC Ensembl
Outerchr2:132729498..132751362hg18UCSC Ensembl
Innerchr2:132847131..132867906hg17UCSC Ensembl
Outerchr2:132846760..132868624hg17UCSC Ensembl
Cytoband2q21.2
Allele length
AssemblyAllele length
hg3821865
hg1921865
hg1821865
hg1721865
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10191
Supporting Variants
SamplesNA11830
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)nssv28386
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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