A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28561



Internal ID15497231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:44675393..44702625hg38UCSC Ensembl
Outerchr19:44674838..44703359hg38UCSC Ensembl
Innerchr19:45178665..45205895hg19UCSC Ensembl
Outerchr19:45178110..45206629hg19UCSC Ensembl
Innerchr19:49870505..49897735hg18UCSC Ensembl
Outerchr19:49869950..49898469hg18UCSC Ensembl
Innerchr19:49870505..49897735hg17UCSC Ensembl
Outerchr19:49869950..49898469hg17UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg3828522
hg1928520
hg1828520
hg1728520
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9737
Supporting Variants
SamplesNA19221
Known GenesCEACAM16, CEACAM19
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)nssv28561
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