A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv467658



Internal ID15181037
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:2902596..2924715hg38UCSC Ensembl
Innerchr11:2923826..2945945hg19UCSC Ensembl
Innerchr11:2880402..2902521hg18UCSC Ensembl
Innerchr11:2880402..2902521hg17UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3822120
hg1922120
hg1822120
hg1722120
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv542874
SamplesHGDP00950
Known GenesSLC22A18, SLC22A18AS
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)nsv467658
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