A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28562



Internal ID15497254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:47357198..47426787hg38UCSC Ensembl
Outerchr19:47356269..47427931hg38UCSC Ensembl
Innerchr19:47860455..47930044hg19UCSC Ensembl
Outerchr19:47859526..47931188hg19UCSC Ensembl
Innerchr19:52552295..52621856hg18UCSC Ensembl
Outerchr19:52551366..52623000hg18UCSC Ensembl
Innerchr19:52552295..52621856hg17UCSC Ensembl
Outerchr19:52551366..52623000hg17UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg3871663
hg1971663
hg1871635
hg1771635
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9738
Supporting Variants
SamplesNA19221
Known GenesDHX34, MEIS3
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)nssv28562
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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