A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv467641



Internal ID15527706
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:1333474..1376789hg38UCSC Ensembl
Innerchr11:1354704..1398019hg19UCSC Ensembl
Innerchr11:1311280..1354595hg18UCSC Ensembl
Innerchr11:1311280..1354595hg17UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg3843316
hg1943316
hg1843316
hg1743316
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv542861
Samples1780862067_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)nsv467641
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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