A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12273



Internal ID15828210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:22046098..22052573hg38UCSC Ensembl
Outerchr4:22045403..22053341hg38UCSC Ensembl
Innerchr4:22047721..22054196hg19UCSC Ensembl
Outerchr4:22047026..22054964hg19UCSC Ensembl
Innerchr4:21656819..21663294hg18UCSC Ensembl
Outerchr4:21656124..21664062hg18UCSC Ensembl
Innerchr4:21723990..21730465hg17UCSC Ensembl
Outerchr4:21723295..21731233hg17UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg387939
hg197939
hg187939
hg177939
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10464
Supporting Variants
SamplesNA07048
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)nssv12273
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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