A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15753



Internal ID15481502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:109682615..109698097hg38UCSC Ensembl
Outerchr1:109681139..109699056hg38UCSC Ensembl
Innerchr1:110225237..110240719hg19UCSC Ensembl
Outerchr1:110223761..110241678hg19UCSC Ensembl
Innerchr1:110026760..110042242hg18UCSC Ensembl
Outerchr1:110025284..110043201hg18UCSC Ensembl
Innerchr1:109937279..109952761hg17UCSC Ensembl
Outerchr1:109935803..109953720hg17UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3817918
hg1917918
hg1817918
hg1717918
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10617
Supporting Variants
SamplesNA07048
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)nssv15753
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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