A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv26030



Internal ID15496317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54764812..54765299hg38UCSC Ensembl
Outerchr19:54764111..54766481hg38UCSC Ensembl
Innerchr19:55276264..55276751hg19UCSC Ensembl
Outerchr19:55275563..55277933hg19UCSC Ensembl
Innerchr19:59968076..59968563hg18UCSC Ensembl
Outerchr19:59967375..59969745hg18UCSC Ensembl
Innerchr19:59968076..59968563hg17UCSC Ensembl
Outerchr19:59967375..59969745hg17UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg382371
hg192371
hg182371
hg172371
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9761
Supporting Variants
SamplesNA19173
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)nssv26030
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