A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv467713



Internal ID6049034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:17408025..17440473hg19UCSC Ensembl
Innerchr11:17364601..17397049hg18UCSC Ensembl
Innerchr11:17364601..17397049hg17UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv542919
SamplesNINDS_49
Known GenesABCC8, KCNJ11
MethodSNP_genotyping_analysis
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 Provided
Comments
ReferenceItsara et al 2009
Pubmed ID19166990
Accession Number(s)nsv467713
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