A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28051



Internal ID15494626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12932682..12932708hg38UCSC Ensembl
Outerchr1:12932211..12933012hg38UCSC Ensembl
Innerchr1:12992512..12992538hg19UCSC Ensembl
Outerchr1:12992041..12992842hg19UCSC Ensembl
Innerchr1:12915099..12915125hg18UCSC Ensembl
Outerchr1:12914628..12915429hg18UCSC Ensembl
Innerchr1:12926778..12926804hg17UCSC Ensembl
Outerchr1:12926307..12927108hg17UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg38802
hg19802
hg18802
hg17802
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8768
Supporting Variants
SamplesNA19007
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)nssv28051
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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