A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv24086



Internal ID15842849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:22534206..22535949hg38UCSC Ensembl
Outerchr16:22533900..22536156hg38UCSC Ensembl
Innerchr16:22545527..22547270hg19UCSC Ensembl
Outerchr16:22545221..22547477hg19UCSC Ensembl
Innerchr16:22453028..22454771hg18UCSC Ensembl
Outerchr16:22452722..22454978hg18UCSC Ensembl
Innerchr16:22453028..22454771hg17UCSC Ensembl
Outerchr16:22452722..22454978hg17UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg382257
hg192257
hg182257
hg172257
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9405
Supporting Variants
SamplesNA19144
Known GenesNPIPB5
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)nssv24086
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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