A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13092



Internal ID15485971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16476534..16485681hg38UCSC Ensembl
Outerchr1:16475229..16488527hg38UCSC Ensembl
Innerchr1:16803029..16812176hg19UCSC Ensembl
Outerchr1:16801724..16815022hg19UCSC Ensembl
Innerchr1:16675616..16684763hg18UCSC Ensembl
Outerchr1:16674311..16687609hg18UCSC Ensembl
Innerchr1:16548335..16557482hg17UCSC Ensembl
Outerchr1:16547030..16560328hg17UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3813299
hg1913299
hg1813299
hg1713299
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9324
Supporting Variants
SamplesNA18502
Known GenesCROCCP3
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)nssv13092
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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