A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12212



Internal ID15480827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:143963429..143966434hg38UCSC Ensembl
Outerchr4:143962730..143967226hg38UCSC Ensembl
Innerchr4:144884582..144887587hg19UCSC Ensembl
Outerchr4:144883883..144888379hg19UCSC Ensembl
Innerchr4:145104032..145107037hg18UCSC Ensembl
Outerchr4:145103333..145107829hg18UCSC Ensembl
Innerchr4:145242187..145245192hg17UCSC Ensembl
Outerchr4:145241488..145245984hg17UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg384497
hg194497
hg184497
hg174497
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10584
Supporting Variants
SamplesNA07029
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)nssv12212
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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