A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv26010



Internal ID15843034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54239834..54243897hg38UCSC Ensembl
Outerchr19:54239339..54244649hg38UCSC Ensembl
Innerchr19:54743710..54747735hg19UCSC Ensembl
Outerchr19:54743215..54748490hg19UCSC Ensembl
Innerchr19:59435522..59439547hg18UCSC Ensembl
Outerchr19:59435027..59440302hg18UCSC Ensembl
Innerchr19:59435522..59439547hg17UCSC Ensembl
Outerchr19:59435027..59440302hg17UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg385311
hg195276
hg185276
hg175276
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9752
Supporting Variants
SamplesNA19173
Known GenesLILRA6
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)nssv26010
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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