A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv10092



Internal ID15845055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:95705729..95807096hg38UCSC Ensembl
Outerchr2:96371477..96472844hg19UCSC Ensembl
Outerchr2:95735204..95836571hg18UCSC Ensembl
Outerchr2:95793351..95894718hg17UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg38101368
hg19101368
hg18101368
hg17101368
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv28192, nssv11520
SamplesNA18502, NA19221
Known GenesLINC00342
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)nsv10092
Frequency
Sample Size31
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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