A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5939226



Internal ID22714616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:14433568..14478665hg38UCSC Ensembl
chr20:14414214..14459311hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg3845098
hg1945098
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17395602
Samples
Known GenesMACROD2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5939226
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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