A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12382



Internal ID15838788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:182649180..182650453hg38UCSC Ensembl
Outerchr4:182647989..182650994hg38UCSC Ensembl
Innerchr4:183570333..183571606hg19UCSC Ensembl
Outerchr4:183569142..183572147hg19UCSC Ensembl
Innerchr4:183807327..183808600hg18UCSC Ensembl
Outerchr4:183806136..183809141hg18UCSC Ensembl
Innerchr4:183945482..183946755hg17UCSC Ensembl
Outerchr4:183944291..183947296hg17UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg383006
hg193006
hg183006
hg173006
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10621
Supporting Variants
SamplesNA18942
Known GenesTENM3
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)nssv12382
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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