A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9763



Internal ID15500989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:54836011..54842741hg38UCSC Ensembl
Outerchr19:55347466..55354196hg19UCSC Ensembl
Outerchr19:60039278..60046008hg18UCSC Ensembl
Outerchr19:60039278..60046008hg17UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg386731
hg196731
hg186731
hg176731
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv25845
SamplesNA18537
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)nsv9763
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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