A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542909



Internal ID15504275
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:6123768..6143470hg38UCSC Ensembl
Innerchr11:6144998..6164700hg19UCSC Ensembl
Innerchr11:6101574..6121276hg18UCSC Ensembl
Innerchr11:6101574..6121276hg17UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3819703
hg1919703
hg1819703
hg1719703
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv467697
Supporting Variants
Samples1782681080_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)nssv542909
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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