A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28100



Internal ID15837880
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:132255826..132281486hg38UCSC Ensembl
Outerchr2:132255455..132282007hg38UCSC Ensembl
Innerchr2:133013399..133039059hg19UCSC Ensembl
Outerchr2:133013028..133039580hg19UCSC Ensembl
Innerchr2:132729869..132755529hg18UCSC Ensembl
Outerchr2:132729498..132756050hg18UCSC Ensembl
Innerchr2:132847131..132872791hg17UCSC Ensembl
Outerchr2:132846760..132873312hg17UCSC Ensembl
Cytoband2q21.2
Allele length
AssemblyAllele length
hg3826553
hg1926553
hg1826553
hg1726553
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10191
Supporting Variants
SamplesNA18853
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)nssv28100
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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