A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv10330



Internal ID15845293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:138113957..138115756hg38UCSC Ensembl
Outerchr3:137832799..137834598hg19UCSC Ensembl
Outerchr3:139315489..139317288hg18UCSC Ensembl
Outerchr3:139315497..139317296hg17UCSC Ensembl
Cytoband3q22.3
Allele length
AssemblyAllele length
hg381800
hg191800
hg181800
hg171800
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv12284, nssv11619
SamplesNA18517, NA12740
Known GenesDZIP1L
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)nsv10330
Frequency
Sample Size31
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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