A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv10089



Internal ID15845052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:94859007..94890821hg38UCSC Ensembl
Outerchr2:95524752..95556566hg19UCSC Ensembl
Outerchr2:94888479..94920293hg18UCSC Ensembl
Outerchr2:94946626..94978440hg17UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg3831815
hg1931815
hg1831815
hg1731815
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv27393, nssv27514, nssv28507, nssv27505
SamplesNA12155, NA10863, NA18537
Known GenesLOC442028, TEKT4
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)nsv10089
Frequency
Sample Size31
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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