A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8214



Internal ID15846126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:148384374..148388392hg38UCSC Ensembl
Outerchr1:147856530..147860544hg19UCSC Ensembl
Outerchr1:146323154..146327168hg18UCSC Ensembl
Outerchr1:144971442..144975456hg17UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg384019
hg194015
hg184015
hg174015
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv21408
SamplesNA18564
Known GenesMIR6077-1, MIR6077-2, NBPF10, NBPF8
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)nsv8214
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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