A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28500



Internal ID15497606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:43200161..43249150hg38UCSC Ensembl
Outerchr19:43199832..43251994hg38UCSC Ensembl
Innerchr19:43704313..43753302hg19UCSC Ensembl
Outerchr19:43703984..43756146hg19UCSC Ensembl
Innerchr19:48396153..48445142hg18UCSC Ensembl
Outerchr19:48395824..48447986hg18UCSC Ensembl
Innerchr19:48396153..48445142hg17UCSC Ensembl
Outerchr19:48395824..48447986hg17UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg3852163
hg1952163
hg1852163
hg1752163
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9730
Supporting Variants
SamplesNA19221
Known GenesLOC284344, PSG4
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)nssv28500
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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