A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542921



Internal ID15511937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:17594108..17634601hg38UCSC Ensembl
Innerchr11:17615655..17656148hg19UCSC Ensembl
Innerchr11:17572231..17612724hg18UCSC Ensembl
Innerchr11:17572231..17612724hg17UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg3840494
hg1940494
hg1840494
hg1740494
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv467715
Supporting Variants
SamplesNINDS_172
Known GenesOTOG
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)nssv542921
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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