A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14085



Internal ID15488048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16476534..16483210hg38UCSC Ensembl
Outerchr1:16475229..16483905hg38UCSC Ensembl
Innerchr1:16803029..16809705hg19UCSC Ensembl
Outerchr1:16801724..16810400hg19UCSC Ensembl
Innerchr1:16675616..16682292hg18UCSC Ensembl
Outerchr1:16674311..16682987hg18UCSC Ensembl
Innerchr1:16548335..16555011hg17UCSC Ensembl
Outerchr1:16547030..16555706hg17UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg388677
hg198677
hg188677
hg178677
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9324
Supporting Variants
SamplesNA18537
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)nssv14085
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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