A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv944141



Internal ID16238097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:64047196..64049671hg38UCSC Ensembl
Innerchr20:62678549..62681024hg19UCSC Ensembl
Innerchr20:62148993..62151468hg18UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg382476
hg192476
hg182476
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv586721
Supporting Variants
Samples
Known GenesSOX18
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv944141
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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