A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9761



Internal ID15500987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:54735888..54824909hg38UCSC Ensembl
Outerchr19:55247355..55336364hg19UCSC Ensembl
Outerchr19:59939167..60028176hg18UCSC Ensembl
Outerchr19:59939167..60028176hg17UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3889022
hg1989010
hg1889010
hg1789010
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv27866, nssv27048, nssv26030, nssv27058, nssv27008, nssv25824, nssv22330, nssv26353, nssv25518
SamplesNA11830, NA12802, NA18860, NA18537, NA19240, NA19144, NA19173
Known GenesKIR2DL1, KIR2DL3, KIR2DL4, KIR3DL1, KIR3DL3, LOC100287534
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)nsv9761
Frequency
Sample Size31
Observed Gain2
Observed Loss5
Observed Complex0
Frequencyn/a


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