A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv467713



Internal ID8494760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:17386478..17418926hg38UCSC Ensembl
Innerchr11:17408025..17440473hg19UCSC Ensembl
Innerchr11:17364601..17397049hg18UCSC Ensembl
Innerchr11:17364601..17397049hg17UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg3832449
hg1932449
hg1832449
hg1732449
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv542919
SamplesNINDS_49
Known GenesABCC8, KCNJ11
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)nsv467713
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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