A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14940



Internal ID15843506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:182805903..182828130hg38UCSC Ensembl
Outerchr4:182805204..182829305hg38UCSC Ensembl
Innerchr4:183727056..183749283hg19UCSC Ensembl
Outerchr4:183726357..183750458hg19UCSC Ensembl
Innerchr4:183964050..183986277hg18UCSC Ensembl
Outerchr4:183963351..183987452hg18UCSC Ensembl
Innerchr4:184102205..184124432hg17UCSC Ensembl
Outerchr4:184101506..184125607hg17UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg3824102
hg1924102
hg1824102
hg1724102
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10622
Supporting Variants
SamplesNA19221
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)nssv14940
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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