A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12385



Internal ID15840687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:123557231..123558164hg38UCSC Ensembl
Outerchr4:123556658..123558714hg38UCSC Ensembl
Innerchr4:124478386..124479319hg19UCSC Ensembl
Outerchr4:124477813..124479869hg19UCSC Ensembl
Innerchr4:124697836..124698769hg18UCSC Ensembl
Outerchr4:124697263..124699319hg18UCSC Ensembl
Innerchr4:124835991..124836924hg17UCSC Ensembl
Outerchr4:124835418..124837474hg17UCSC Ensembl
Cytoband4q28.1
Allele length
AssemblyAllele length
hg382057
hg192057
hg182057
hg172057
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10562
Supporting Variants
SamplesNA18980
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)nssv12385
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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