A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27372



Internal ID15486258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:107280..109510hg38UCSC Ensembl
Outerchr19:106927..110022hg38UCSC Ensembl
Innerchr19:107280..109510hg19UCSC Ensembl
Outerchr19:106927..110022hg19UCSC Ensembl
Innerchr19:58280..60510hg18UCSC Ensembl
Outerchr19:57927..61022hg18UCSC Ensembl
Innerchr19:58280..60510hg17UCSC Ensembl
Outerchr19:57927..61022hg17UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg383096
hg193096
hg183096
hg173096
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9651
Supporting Variants
SamplesNA18502
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)nssv27372
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