A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9730



Internal ID15500956
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:42699307..43298504hg38UCSC Ensembl
Outerchr19:43203459..43802656hg19UCSC Ensembl
Outerchr19:47895299..48494496hg18UCSC Ensembl
Outerchr19:47895299..48494496hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38599198
hg19599198
hg18599198
hg17599198
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv22120, nssv27550, nssv25635, nssv27542, nssv25478, nssv26961, nssv28500, nssv25524, nssv27558, nssv25547, nssv25612, nssv26231, nssv26951, nssv25207, nssv26617, nssv25501, nssv25381, nssv26630
SamplesNA18980, NA18504, NA12155, NA12802, NA19007, NA19221, NA18537, NA18517, NA19144, NA12740
Known GenesLOC100289650, LOC284344, PSG1, PSG10P, PSG11, PSG2, PSG3, PSG4, PSG5, PSG6, PSG7, PSG8, 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)nsv9730
Frequency
Sample Size31
Observed Gain7
Observed Loss3
Observed Complex0
Frequencyn/a


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