A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28946



Internal ID15496304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:1716251..1728221hg38UCSC Ensembl
Outerchr1:1714731..1728947hg38UCSC Ensembl
Innerchr1:1647690..1659660hg19UCSC Ensembl
Outerchr1:1646170..1660386hg19UCSC Ensembl
Innerchr1:1637550..1649520hg18UCSC Ensembl
Outerchr1:1636030..1650246hg18UCSC Ensembl
Innerchr1:1679852..1691822hg17UCSC Ensembl
Outerchr1:1678332..1692548hg17UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3814217
hg1914217
hg1814217
hg1714217
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10161
Supporting Variants
SamplesNA19173
Known GenesCDK11A, CDK11B, SLC35E2
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)nssv28946
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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