A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv25486



Internal ID15494595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54054018..54057203hg38UCSC Ensembl
Outerchr19:54051361..54058628hg38UCSC Ensembl
Innerchr19:54557272..54560457hg19UCSC Ensembl
Outerchr19:54554615..54561882hg19UCSC Ensembl
Innerchr19:59249084..59252269hg18UCSC Ensembl
Outerchr19:59246427..59253694hg18UCSC Ensembl
Innerchr19:59249084..59252269hg17UCSC Ensembl
Outerchr19:59246427..59253694hg17UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg387268
hg197268
hg187268
hg177268
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9750
Supporting Variants
SamplesNA19007
Known GenesVSTM1
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)nssv25486
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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