A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469168



Internal ID15182547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:24251063..24282487hg38UCSC Ensembl
Innerchr12:24403997..24435421hg19UCSC Ensembl
Innerchr12:24295264..24326688hg18UCSC Ensembl
Innerchr12:24295264..24326688hg17UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg3831425
hg1931425
hg1831425
hg1731425
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv544131
Samples1780862194_A
Known GenesSOX5
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)nsv469168
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