A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16749



Internal ID15484850
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:147172487..147172959hg38UCSC Ensembl
Outerchr1:147171752..147174416hg38UCSC Ensembl
Innerchr1:146644066..146644538hg19UCSC Ensembl
Outerchr1:146643331..146645995hg19UCSC Ensembl
Innerchr1:145110690..145111162hg18UCSC Ensembl
Outerchr1:145109955..145112619hg18UCSC Ensembl
Innerchr1:143868882..143869354hg17UCSC Ensembl
Outerchr1:143868147..143870811hg17UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg382665
hg192665
hg182665
hg172665
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8169
Supporting Variants
SamplesNA12740
Known GenesPRKAB2
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)nssv16749
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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