A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12657



Internal ID15841771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:197656356..197664121hg38UCSC Ensembl
Outerchr3:197655731..197664708hg38UCSC Ensembl
Innerchr3:197383227..197390992hg19UCSC Ensembl
Outerchr3:197382602..197391579hg19UCSC Ensembl
Innerchr3:198867624..198875389hg18UCSC Ensembl
Outerchr3:198866999..198875976hg18UCSC Ensembl
Innerchr3:198871537..198879302hg17UCSC Ensembl
Outerchr3:198870912..198879889hg17UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg388978
hg198978
hg188978
hg178978
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10401
Supporting Variants
SamplesNA19132
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)nssv12657
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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