A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9767



Internal ID15500993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:54962227..54971761hg38UCSC Ensembl
Outerchr19:55473595..55483129hg19UCSC Ensembl
Outerchr19:60165407..60174941hg18UCSC Ensembl
Outerchr19:60165407..60174941hg17UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg389535
hg199535
hg189535
hg179535
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv25509, nssv27873, nssv26812, nssv27068, nssv24488
SamplesNA12155, NA18860, NA19007, NA10863, NA19240
Known GenesNLRP2
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)nsv9767
Frequency
Sample Size31
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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