A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517845



Internal ID15098452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:14725242..14885972hg38UCSC Ensembl
Innerchr20:14705888..14866618hg19UCSC Ensembl
Innerchr20:14653888..14814618hg18UCSC Ensembl
Innerchr20:14653888..14814618hg17UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg38160731
hg19160731
hg18160731
hg17160731
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695250
Samples
Known GenesMACROD2, MACROD2-AS1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517845
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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