A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28542



Internal ID15486736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:1688748..1751947hg38UCSC Ensembl
Innerchr1:1620187..1683386hg19UCSC Ensembl
Innerchr1:1610047..1673246hg18UCSC Ensembl
Innerchr1:1652349..1715548hg17UCSC Ensembl
Outerchr1:1597760..1716076hg17UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3863200
hg1963200
hg1863200
hg17118317
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10161
Supporting Variants
SamplesNA18504
Known GenesCDK11A, CDK11B, MMP23A, NADK, SLC35E2, SLC35E2B
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)nssv28542
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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