A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv468980



Internal ID15529045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:3569085..3588673hg38UCSC Ensembl
Innerchr12:3678251..3697839hg19UCSC Ensembl
Innerchr12:3548512..3568100hg18UCSC Ensembl
Innerchr12:3548512..3568100hg17UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg3819589
hg1919589
hg1819589
hg1719589
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv544004
SamplesHGDP00976
Known GenesPRMT8
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)nsv468980
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