A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12236



Internal ID15841057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:87998513..88001761hg38UCSC Ensembl
Outerchr4:87997775..88002406hg38UCSC Ensembl
Innerchr4:88919665..88922913hg19UCSC Ensembl
Outerchr4:88918927..88923558hg19UCSC Ensembl
Innerchr4:89138689..89141937hg18UCSC Ensembl
Outerchr4:89137951..89142582hg18UCSC Ensembl
Innerchr4:89276844..89280092hg17UCSC Ensembl
Outerchr4:89276106..89280737hg17UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg384632
hg194632
hg184632
hg174632
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10530
Supporting Variants
SamplesNA19007
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)nssv12236
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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