A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14762



Internal ID15480605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:41187..125961hg38UCSC Ensembl
Outerchr1:37889..127330hg38UCSC Ensembl
Innerchr1:41187..125961hg19UCSC Ensembl
Outerchr1:37889..127330hg19UCSC Ensembl
Innerchr1:31050..115824hg18UCSC Ensembl
Outerchr1:27752..117193hg18UCSC Ensembl
Innerchr1:31050..115824hg17UCSC Ensembl
Outerchr1:27752..117193hg17UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3889442
hg1989442
hg1889442
hg1789442
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7879
Supporting Variants
SamplesNA07029
Known GenesOR4F5
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)nssv14762
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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