A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv455682



Internal ID15515747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:86800733..86881094hg38UCSC Ensembl
Innerchr12:87194510..87274871hg19UCSC Ensembl
Innerchr12:85718641..85799002hg18UCSC Ensembl
Innerchr12:85696978..85777339hg17UCSC Ensembl
Cytoband12q21.32
Allele length
AssemblyAllele length
hg3880362
hg1980362
hg1880362
hg1780362
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533190
SamplesHGDP01285
Known GenesMGAT4C
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)nsv455682
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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