A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv20100



Internal ID15497345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:109680611..109695271hg38UCSC Ensembl
Outerchr1:109680376..109696501hg38UCSC Ensembl
Innerchr1:110223233..110237893hg19UCSC Ensembl
Outerchr1:110222998..110239123hg19UCSC Ensembl
Innerchr1:110024756..110039416hg18UCSC Ensembl
Outerchr1:110024521..110040646hg18UCSC Ensembl
Innerchr1:109935275..109949935hg17UCSC Ensembl
Outerchr1:109935040..109951165hg17UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3816126
hg1916126
hg1816126
hg1716126
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10617
Supporting Variants
SamplesNA19221
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)nssv20100
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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