A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv467721



Internal ID15527786
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:20214906..20254400hg38UCSC Ensembl
Innerchr11:20236452..20275946hg19UCSC Ensembl
Innerchr11:20193028..20232522hg18UCSC Ensembl
Innerchr11:20193028..20232522hg17UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg3839495
hg1939495
hg1839495
hg1739495
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv542925
Samples1780862575_A
Known Genes
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)nsv467721
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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