A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv544126



Internal ID15158574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:21354768..21402757hg38UCSC Ensembl
Innerchr12:21507702..21555691hg19UCSC Ensembl
Innerchr12:21398969..21446958hg18UCSC Ensembl
Innerchr12:21398969..21446958hg17UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg3847990
hg1947990
hg1847990
hg1747990
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsnsv469161
Supporting Variants
SamplesHGDP00090
Known GenesIAPP, SLCO1A2
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)nssv544126
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