A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14243



Internal ID15492592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:143850270..143856510hg38UCSC Ensembl
Outerchr4:143849778..143857469hg38UCSC Ensembl
Innerchr4:144771423..144777663hg19UCSC Ensembl
Outerchr4:144770931..144778622hg19UCSC Ensembl
Innerchr4:144990873..144997113hg18UCSC Ensembl
Outerchr4:144990381..144998072hg18UCSC Ensembl
Innerchr4:145129028..145135268hg17UCSC Ensembl
Outerchr4:145128536..145136227hg17UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg387692
hg197692
hg187692
hg177692
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10584
Supporting Variants
SamplesNA18972
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)nssv14243
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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