A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv20744



Internal ID15487786
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:109679125..109680376hg38UCSC Ensembl
Outerchr1:109678052..109680611hg38UCSC Ensembl
Innerchr1:110221747..110222998hg19UCSC Ensembl
Outerchr1:110220674..110223233hg19UCSC Ensembl
Innerchr1:110023270..110024521hg18UCSC Ensembl
Outerchr1:110022197..110024756hg18UCSC Ensembl
Innerchr1:109933789..109935040hg17UCSC Ensembl
Outerchr1:109932716..109935275hg17UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg382560
hg192560
hg182560
hg172560
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10617
Supporting Variants
SamplesNA18517
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)nssv20744
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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