A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27058



Internal ID15498233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54818441..54820755hg38UCSC Ensembl
Outerchr19:54817822..54821965hg38UCSC Ensembl
Innerchr19:55329896..55332210hg19UCSC Ensembl
Outerchr19:55329277..55333420hg19UCSC Ensembl
Innerchr19:60021708..60024022hg18UCSC Ensembl
Outerchr19:60021089..60025232hg18UCSC Ensembl
Innerchr19:60021708..60024022hg17UCSC Ensembl
Outerchr19:60021089..60025232hg17UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg384144
hg194144
hg184144
hg174144
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9761
Supporting Variants
SamplesNA19240
Known GenesKIR3DL1
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)nssv27058
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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