A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9764



Internal ID15500990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:54840471..54849591hg38UCSC Ensembl
Outerchr19:55351926..55361046hg19UCSC Ensembl
Outerchr19:60043738..60052858hg18UCSC Ensembl
Outerchr19:60043738..60052858hg17UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg389121
hg199121
hg189121
hg179121
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv24462, nssv22390
SamplesNA12802, NA10863
Known GenesKIR2DS4
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)nsv9764
Frequency
Sample Size31
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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