A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13347



Internal ID15841577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:69242351..69242974hg38UCSC Ensembl
Outerchr4:69241827..69243247hg38UCSC Ensembl
Innerchr4:70108069..70108692hg19UCSC Ensembl
Outerchr4:70107545..70108965hg19UCSC Ensembl
Innerchr4:70142658..70143281hg18UCSC Ensembl
Outerchr4:70142134..70143554hg18UCSC Ensembl
Innerchr4:70288829..70289452hg17UCSC Ensembl
Outerchr4:70288305..70289725hg17UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg381421
hg191421
hg181421
hg171421
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10524
Supporting Variants
SamplesNA19132
Known Genes
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)nssv13347
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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