A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28533



Internal ID15481947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:1716251..1737812hg38UCSC Ensembl
Outerchr1:1714731..1738193hg38UCSC Ensembl
Innerchr1:1647690..1669251hg19UCSC Ensembl
Outerchr1:1646170..1669632hg19UCSC Ensembl
Innerchr1:1637550..1659111hg18UCSC Ensembl
Outerchr1:1636030..1659492hg18UCSC Ensembl
Innerchr1:1679852..1701413hg17UCSC Ensembl
Outerchr1:1678332..1701794hg17UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3823463
hg1923463
hg1823463
hg1723463
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10161
Supporting Variants
SamplesNA10839
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)nssv28533
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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