A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv938050



Internal ID16232006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:14589296..14682075hg38UCSC Ensembl
Innerchr20:14569942..14662721hg19UCSC Ensembl
Innerchr20:14517942..14610721hg18UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg3892780
hg1992780
hg1892780
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv585451
Supporting Variants
Samples
Known GenesMACROD2, MACROD2-IT1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv938050
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer