A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv543918



Internal ID15163471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:101397716..101460076hg38UCSC Ensembl
Innerchr11:101268447..101330807hg19UCSC Ensembl
Innerchr11:100773657..100836017hg18UCSC Ensembl
Innerchr11:100773657..100836017hg17UCSC Ensembl
Cytoband11q22.1
Allele length
AssemblyAllele length
hg3862361
hg1962361
hg1862361
hg1762361
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv468851
Supporting Variants
SamplesHGDP01198
Known GenesTRPC6
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)nssv543918
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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