A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542994



Internal ID15512257
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:38243164..38300656hg38UCSC Ensembl
Innerchr11:38264714..38322206hg19UCSC Ensembl
Innerchr11:38221290..38278782hg18UCSC Ensembl
Innerchr11:38221290..38278782hg17UCSC Ensembl
Cytoband11p12
Allele length
AssemblyAllele length
hg3857493
hg1957493
hg1857493
hg1757493
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv467846
Supporting Variants
SamplesNINDS_222
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)nssv542994
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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