A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12063



Internal ID15827787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:6617555..6618730hg38UCSC Ensembl
Outerchr4:6615429..6620195hg38UCSC Ensembl
Innerchr4:6619282..6620457hg19UCSC Ensembl
Outerchr4:6617156..6621922hg19UCSC Ensembl
Innerchr4:6670183..6671358hg18UCSC Ensembl
Outerchr4:6668057..6672823hg18UCSC Ensembl
Innerchr4:6737354..6738529hg17UCSC Ensembl
Outerchr4:6735228..6739994hg17UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg384767
hg194767
hg184767
hg174767
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10440
Supporting Variants
SamplesNA07048
Known GenesMAN2B2
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)nssv12063
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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