A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv833331



Internal ID16110514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:89726091..89849806hg38UCSC Ensembl
Outerchr16:89792499..89916214hg19UCSC Ensembl
Outerchr16:88320000..88443715hg18UCSC Ensembl
Outerchr16:88320000..88443715hg17UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38123716
hg19123716
hg18123716
hg17123716
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1453032, nssv1453021, nssv1453041, nssv1453028, nssv1453022, nssv1453012, nssv1453008, nssv1453033, nssv1453027, nssv1453019, nssv1453023, nssv1453013, nssv1453010, nssv1453031, nssv1453040, nssv1453034, nssv1453004, nssv1453015, nssv1453038, nssv1453025, nssv1453039, nssv1453024, nssv1453011, nssv1453035, nssv1453026, nssv1453005, nssv1453007, nssv1453030, nssv1453014, nssv1453029, nssv1453018, nssv1453017, nssv1453036, nssv1453006, nssv1453016, nssv1453009, nssv1453020, nssv1453042, nssv1453037
Samples
Known GenesFANCA, SPIRE2, ZNF276
MethodBAC aCGH
AnalysisExperimental SDs (SDautosome) were calculated for each experiment on the basis of the log2 ratios of the 24,392 reliable clones minus the clones removed because of low signal-to-noise ratio (SNR) or high SD of replicate clone measures (SDclone). Thresholds for determining CNV clones were set at a multiple of the SDautosome value. For each experiment, clones were annotated as uninformative if they were filtered via SNR or SDclone, as a CNV loss if the log2 ratio was less than the negative threshold, as unchanged if the log2 ratio was between the negative and positive thresholds, and as a CNV gain if the log2 ratio was above the positive threshold.
PlatformGPL2616
Comments
ReferenceWong_et_al_2007
Pubmed ID17160897
Accession Number(s)nsv833331
Frequency
Sample Size95
Observed Gain38
Observed Loss1
Observed Complex0
Frequencyn/a


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