A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv22714



Internal ID15482967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:89830660..89834649hg38UCSC Ensembl
Outerchr16:89829349..89835481hg38UCSC Ensembl
Innerchr16:89897068..89901057hg19UCSC Ensembl
Outerchr16:89895757..89901889hg19UCSC Ensembl
Innerchr16:88424569..88428558hg18UCSC Ensembl
Outerchr16:88423258..88429390hg18UCSC Ensembl
Innerchr16:88424569..88428558hg17UCSC Ensembl
Outerchr16:88423258..88429390hg17UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg386133
hg196133
hg186133
hg176133
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9478
Supporting Variants
SamplesNA10863
Known GenesSPIRE2
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)nssv22714
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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