A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv22309



Internal ID15490211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:37270258..37303537hg38UCSC Ensembl
Outerchr19:37230858..37303745hg38UCSC Ensembl
Innerchr19:37761160..37794439hg19UCSC Ensembl
Outerchr19:37721760..37794647hg19UCSC Ensembl
Innerchr19:42453000..42486279hg18UCSC Ensembl
Outerchr19:42413600..42486487hg18UCSC Ensembl
Innerchr19:42453000..42486279hg17UCSC Ensembl
Outerchr19:42413600..42486487hg17UCSC Ensembl
Cytoband19q13.12
Allele length
AssemblyAllele length
hg3872888
hg1972888
hg1872888
hg1772888
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9717
Supporting Variants
SamplesNA18572
Known GenesLOC284412, ZNF383
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)nssv22309
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