A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8641



Internal ID15499867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:49885782..49890084hg38UCSC Ensembl
Outerchr10:51093828..51098130hg19UCSC Ensembl
Outerchr10:50763834..50768136hg18UCSC Ensembl
Outerchr10:50763834..50768136hg17UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg384303
hg194303
hg184303
hg174303
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv22491, nssv18686
SamplesNA18860, NA19007
Known GenesPARG
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)nsv8641
Frequency
Sample Size31
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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