A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12981



Internal ID15837916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:57270745..57272463hg38UCSC Ensembl
Outerchr4:57270225..57273081hg38UCSC Ensembl
Innerchr4:58136911..58138629hg19UCSC Ensembl
Outerchr4:58136391..58139247hg19UCSC Ensembl
Innerchr4:57831668..57833386hg18UCSC Ensembl
Outerchr4:57831148..57834004hg18UCSC Ensembl
Innerchr4:57977839..57979557hg17UCSC Ensembl
Outerchr4:57977319..57980175hg17UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg382857
hg192857
hg182857
hg172857
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10500
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)nssv12981
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