A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12658



Internal ID15496118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:143963429..143971262hg38UCSC Ensembl
Outerchr4:143962730..143971978hg38UCSC Ensembl
Innerchr4:144884582..144892415hg19UCSC Ensembl
Outerchr4:144883883..144893131hg19UCSC Ensembl
Innerchr4:145104032..145111865hg18UCSC Ensembl
Outerchr4:145103333..145112581hg18UCSC Ensembl
Innerchr4:145242187..145250020hg17UCSC Ensembl
Outerchr4:145241488..145250736hg17UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg389249
hg199249
hg189249
hg179249
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10584
Supporting Variants
SamplesNA19144
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)nssv12658
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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