A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9750



Internal ID15500976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:54049927..54058628hg38UCSC Ensembl
Outerchr19:54553181..54561882hg19UCSC Ensembl
Outerchr19:59244993..59253694hg18UCSC Ensembl
Outerchr19:59244993..59253694hg17UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg388702
hg198702
hg188702
hg178702
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv25351, nssv24667, nssv24947, nssv25120, nssv25531, nssv26319, nssv24864, nssv22519, nssv26790, nssv27815, nssv21785, nssv22270, nssv27582, nssv27670, nssv25736, nssv25486, nssv25365, nssv24538, nssv27041
SamplesNA18980, NA18504, NA12155, NA18563, NA12802, NA18860, NA07048, NA10839, NA18975, NA19007, NA10847, NA18572, NA18537, NA18853, NA18517, NA18564, NA19144, NA18972, NA18552
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)nsv9750
Frequency
Sample Size31
Observed Gain19
Observed Loss0
Observed Complex0
Frequencyn/a


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