A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14094



Internal ID15493407
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:40086676..40087615hg38UCSC Ensembl
Outerchr1:40082338..40088067hg38UCSC Ensembl
Innerchr1:40552348..40553287hg19UCSC Ensembl
Outerchr1:40548010..40553739hg19UCSC Ensembl
Innerchr1:40324935..40325874hg18UCSC Ensembl
Outerchr1:40320597..40326326hg18UCSC Ensembl
Innerchr1:40221441..40222380hg17UCSC Ensembl
Outerchr1:40217103..40222832hg17UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg385730
hg195730
hg185730
hg175730
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10128
Supporting Variants
SamplesNA18975
Known GenesPPT1
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)nssv14094
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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