A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28601



Internal ID15843609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54230349..54239339hg38UCSC Ensembl
Outerchr19:54229526..54239834hg38UCSC Ensembl
Innerchr19:54734224..54743215hg19UCSC Ensembl
Outerchr19:54733401..54743710hg19UCSC Ensembl
Innerchr19:59426036..59435027hg18UCSC Ensembl
Outerchr19:59425213..59435522hg18UCSC Ensembl
Innerchr19:59426036..59435027hg17UCSC Ensembl
Outerchr19:59425213..59435522hg17UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3810309
hg1910310
hg1810310
hg1710310
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9752
Supporting Variants
SamplesNA19221
Known GenesLILRA6
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)nssv28601
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