A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv535814



Internal ID15162518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:31305698..31688103hg38UCSC Ensembl
Innerchr20:29893501..30275906hg19UCSC Ensembl
Innerchr20:29357162..29739567hg18UCSC Ensembl
Innerchr20:29357162..29739567hg17UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg38382406
hg19382406
hg18382406
hg17382406
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv458961
Supporting Variants
SamplesHGDP00956
Known GenesBCL2L1, COX4I2, DEFB116, DEFB118, DEFB119, DEFB121, DEFB122, DEFB123, DEFB124, HM13, HM13-AS1, ID1, LINC00028, MIR3193, PSIMCT-1, REM1
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)nssv535814
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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