A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18771



Internal ID15491908
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:109675511..109711723hg38UCSC Ensembl
Outerchr1:109674658..109712158hg38UCSC Ensembl
Innerchr1:110218133..110254345hg19UCSC Ensembl
Outerchr1:110217280..110254780hg19UCSC Ensembl
Innerchr1:110019656..110055868hg18UCSC Ensembl
Outerchr1:110018803..110056303hg18UCSC Ensembl
Innerchr1:109930175..109966387hg17UCSC Ensembl
Outerchr1:109929322..109966822hg17UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3837501
hg1937501
hg1837501
hg1737501
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10617
Supporting Variants
SamplesNA18860
Known GenesGSTM1, GSTM2
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)nssv18771
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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