A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16742



Internal ID15480783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:109682615..109682999hg38UCSC Ensembl
Outerchr1:109680611..109683052hg38UCSC Ensembl
Innerchr1:110225237..110225621hg19UCSC Ensembl
Outerchr1:110223233..110225674hg19UCSC Ensembl
Innerchr1:110026760..110027144hg18UCSC Ensembl
Outerchr1:110024756..110027197hg18UCSC Ensembl
Innerchr1:109937279..109937663hg17UCSC Ensembl
Outerchr1:109935275..109937716hg17UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg382442
hg192442
hg182442
hg172442
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10617
Supporting Variants
SamplesNA07029
Known GenesGSTM2
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)nssv16742
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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