A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv11678



Internal ID15830446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:132252417..132282007hg38UCSC Ensembl
Outerchr2:132208373..132282579hg38UCSC Ensembl
Innerchr2:133009990..133039580hg19UCSC Ensembl
Outerchr2:132965946..133040152hg19UCSC Ensembl
Innerchr2:132726460..132756050hg18UCSC Ensembl
Outerchr2:132682416..132756622hg18UCSC Ensembl
Innerchr2:132843722..132873312hg17UCSC Ensembl
Outerchr2:132799678..132873884hg17UCSC Ensembl
Cytoband2q21.2
Allele length
AssemblyAllele length
hg3874207
hg1974207
hg1874207
hg1774207
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10191
Supporting Variants
SamplesNA12155
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)nssv11678
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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