A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17747



Internal ID15489388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:109682615..109714396hg38UCSC Ensembl
Outerchr1:109681139..109715089hg38UCSC Ensembl
Innerchr1:110225237..110257018hg19UCSC Ensembl
Outerchr1:110223761..110257711hg19UCSC Ensembl
Innerchr1:110026760..110058541hg18UCSC Ensembl
Outerchr1:110025284..110059234hg18UCSC Ensembl
Innerchr1:109937279..109969060hg17UCSC Ensembl
Outerchr1:109935803..109969753hg17UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3833951
hg1933951
hg1833951
hg1733951
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10617
Supporting Variants
SamplesNA18563
Known GenesGSTM1, GSTM2, GSTM5
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)nssv17747
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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