A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1152383



Internal ID15530568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:31305698..31688103hg38UCSC Ensembl
Innerchr20:29893501..30275906hg19UCSC Ensembl
Innerchr20:29357162..29739567hg18UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg38382406
hg19382406
hg18382406
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv585911
Supporting Variants
SamplesHGDP00956
Known GenesBCL2L1, COX4I2, DEFB116, DEFB118, DEFB119, DEFB121, DEFB122, DEFB123, DEFB124, HM13, HM13-AS1, ID1, LINC00028, MIR3193, PSIMCT-1, REM1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1152383
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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