A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27550



Internal ID15487347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:43211307..43258370hg38UCSC Ensembl
Outerchr19:43210239..43258864hg38UCSC Ensembl
Innerchr19:43715459..43762522hg19UCSC Ensembl
Outerchr19:43714391..43763016hg19UCSC Ensembl
Innerchr19:48407299..48454362hg18UCSC Ensembl
Outerchr19:48406231..48454856hg18UCSC Ensembl
Innerchr19:48407299..48454362hg17UCSC Ensembl
Outerchr19:48406231..48454856hg17UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg3848626
hg1948626
hg1848626
hg1748626
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9730
Supporting Variants
SamplesNA18517
Known GenesLOC284344, PSG9
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)nssv27550
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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