A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12191



Internal ID15485394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:759037..766709hg38UCSC Ensembl
Outerchr5:758402..767157hg38UCSC Ensembl
Innerchr5:759152..766824hg19UCSC Ensembl
Outerchr5:758517..767272hg19UCSC Ensembl
Innerchr5:812152..819824hg18UCSC Ensembl
Outerchr5:811517..820272hg18UCSC Ensembl
Innerchr5:812152..819824hg17UCSC Ensembl
Outerchr5:811517..820272hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg388756
hg198756
hg188756
hg178756
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10654
Supporting Variants
SamplesNA12872
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)nssv12191
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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