A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6531720



Internal ID20905081
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:14561245..14705822hg38UCSC Ensembl
chr20:14541891..14686468hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg38144578
hg19144578
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18066963
Samples
Known GenesMACROD2, MACROD2-IT1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6531720
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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