A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9341



Internal ID15847253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:5296147..5303270hg38UCSC Ensembl
Outerchr16:5346148..5353271hg19UCSC Ensembl
Outerchr16:5286149..5293272hg18UCSC Ensembl
Outerchr16:5286149..5293272hg17UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg387124
hg197124
hg187124
hg177124
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv22203, nssv22456, nssv25622, nssv25683, nssv22624, nssv21782, nssv23318, nssv24966, nssv20842, nssv26275, nssv21906, nssv20239, nssv27680
SamplesNA18502, NA07029, NA18504, NA18942, NA07048, NA10839, NA10863, NA18572, NA19221, NA18517, NA12740, NA18972, NA18552
Known Genes
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)nsv9341
Frequency
Sample Size31
Observed Gain10
Observed Loss3
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer