A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15754



Internal ID15481944
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16879739..16887644hg38UCSC Ensembl
Outerchr1:16879017..16889058hg38UCSC Ensembl
Innerchr1:17206234..17214139hg19UCSC Ensembl
Outerchr1:17205512..17215553hg19UCSC Ensembl
Innerchr1:17078821..17086726hg18UCSC Ensembl
Outerchr1:17078099..17088140hg18UCSC Ensembl
Innerchr1:16951540..16959445hg17UCSC Ensembl
Outerchr1:16950818..16960859hg17UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3810042
hg1910042
hg1810042
hg1710042
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9324
Supporting Variants
SamplesNA10839
Known Genes
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)nssv15754
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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