A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv467791



Internal ID6047653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:36108497..36999385hg19UCSC Ensembl
Innerchr11:36065073..36955961hg18UCSC Ensembl
Innerchr11:36065073..36955961hg17UCSC Ensembl
Cytoband11p12
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Gain
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv542977
SamplesNINDS_178
Known GenesC11orf74, COMMD9, LDLRAD3, PRR5L, RAG1, RAG2, TRAF6
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)nsv467791
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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