A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv467791



Internal ID8494838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:36086947..36977835hg38UCSC Ensembl
Innerchr11:36108497..36999385hg19UCSC Ensembl
Innerchr11:36065073..36955961hg18UCSC Ensembl
Innerchr11:36065073..36955961hg17UCSC Ensembl
Cytoband11p12
Allele length
AssemblyAllele length
hg38890889
hg19890889
hg18890889
hg17890889
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv542977
SamplesNINDS_178
Known GenesC11orf74, COMMD9, LDLRAD3, PRR5L, RAG1, RAG2, TRAF6
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)nsv467791
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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