A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542975



Internal ID15156132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:33043848..33455157hg38UCSC Ensembl
Innerchr11:33065394..33476703hg19UCSC Ensembl
Innerchr11:33021970..33433279hg18UCSC Ensembl
Innerchr11:33021970..33433279hg17UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg38411310
hg19411310
hg18411310
hg17411310
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv467786
Supporting Variants
Samples1780854545_A
Known GenesCSTF3, CSTF3-AS1, HIPK3, LINC00294, TCP11L1
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)nssv542975
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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