A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9405



Internal ID15847317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:22436875..22536886hg38UCSC Ensembl
Outerchr16:22448196..22548207hg19UCSC Ensembl
Outerchr16:22355697..22455708hg18UCSC Ensembl
Outerchr16:22355697..22455708hg17UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg38100012
hg19100012
hg18100012
hg17100012
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv22870, nssv26097, nssv22697, nssv26005, nssv22696, nssv27811, nssv23250, nssv24086, nssv22610
SamplesNA18563, NA19007, NA19221, NA18853, NA18517, NA18564, NA19144, NA18972, NA18552
Known GenesLOC100190986, NPIPB5, RRN3P3, SMG1P1
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)nsv9405
Frequency
Sample Size31
Observed Gain8
Observed Loss1
Observed Complex0
Frequencyn/a


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