A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv25101



Internal ID15840909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:269882..271040hg38UCSC Ensembl
Outerchr19:266988..275332hg38UCSC Ensembl
Innerchr19:269882..271040hg19UCSC Ensembl
Outerchr19:266988..275332hg19UCSC Ensembl
Innerchr19:220882..222040hg18UCSC Ensembl
Outerchr19:217988..226332hg18UCSC Ensembl
Innerchr19:220882..222040hg17UCSC Ensembl
Outerchr19:217988..226332hg17UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg388345
hg198345
hg188345
hg178345
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9652
Supporting Variants
SamplesNA18980
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)nssv25101
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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