A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv467722



Internal ID15181101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:20668471..20738448hg38UCSC Ensembl
Innerchr11:20690017..20759994hg19UCSC Ensembl
Innerchr11:20646593..20716570hg18UCSC Ensembl
Innerchr11:20646593..20716570hg17UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg3869978
hg1969978
hg1869978
hg1769978
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv542926
Samples1782681313_A
Known GenesNELL1
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)nsv467722
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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