A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv22330



Internal ID15485309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54736520..54789755hg38UCSC Ensembl
Outerchr19:54735888..54790372hg38UCSC Ensembl
Innerchr19:55247987..55301207hg19UCSC Ensembl
Outerchr19:55247355..55301824hg19UCSC Ensembl
Innerchr19:59939799..59993019hg18UCSC Ensembl
Outerchr19:59939167..59993636hg18UCSC Ensembl
Innerchr19:59939799..59993019hg17UCSC Ensembl
Outerchr19:59939167..59993636hg17UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3854485
hg1954470
hg1854470
hg1754470
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9761
Supporting Variants
SamplesNA12802
Known GenesKIR2DL1, KIR2DL3, KIR3DL3
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)nssv22330
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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