A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469812



Internal ID15534527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:143773753..143935817hg38UCSC Ensembl
Innerchr4:144694906..144856970hg19UCSC Ensembl
Innerchr4:144914356..145076420hg18UCSC Ensembl
Innerchr4:145272533..145434597hg16UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38162065
hg19162065
hg18162065
hg16162065
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6n29
Supporting Variantsnssv1676531, nssv1673898, nssv1675502, nssv1672139, nssv1675192
Samples
Known GenesGYPE
MethodBAC aCGH
AnalysisA locus was considered a CNV if the log ratio of fluorescence measurements for the individuals assayed exceeded twice the SD of the autosomal clones in both dye-swapped experiments.
PlatformGPL4010
Comments
ReferenceLocke_et_al_2006
Pubmed ID16826518
Accession Number(s)nsv469812
Frequency
Sample Size265
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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