A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13731



Internal ID15838123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:157402162..157402634hg38UCSC Ensembl
Outerchr4:157401231..157408222hg38UCSC Ensembl
Innerchr4:158323314..158323786hg19UCSC Ensembl
Outerchr4:158322383..158329374hg19UCSC Ensembl
Innerchr4:158542764..158543236hg18UCSC Ensembl
Outerchr4:158541833..158548824hg18UCSC Ensembl
Innerchr4:158680919..158681391hg17UCSC Ensembl
Outerchr4:158679988..158686979hg17UCSC Ensembl
Cytoband4q32.1
Allele length
AssemblyAllele length
hg386992
hg196992
hg186992
hg176992
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10592
Supporting Variants
SamplesNA18860
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)nssv13731
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer