A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469780



Internal ID15534495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:241975913..242129809hg38UCSC Ensembl
Innerchr2:242918064..243071960hg19UCSC Ensembl
Innerchr2:242566737..242720633hg18UCSC Ensembl
Innerchr2:243234566..243388462hg16UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38153897
hg19153897
hg18153897
hg16153897
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1673193
Samples
Known GenesLOC728323
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)nsv469780
Frequency
Sample Size265
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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