A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17628483



Internal ID21820530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:14569609..14613350hg38UCSC Ensembl
chr20:14550255..14593996hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg3843742
hg1943742
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6048197
Supporting Variants
Samples
Known GenesMACROD2, MACROD2-IT1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17628483
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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