A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv944148



Internal ID16238104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:64048115..64049523hg38UCSC Ensembl
Innerchr20:62679468..62680876hg19UCSC Ensembl
Innerchr20:62149912..62151320hg18UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg381409
hg191409
hg181409
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv586725
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)nssv944148
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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