A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5532552



Internal ID308472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:15363379..15409367hg38UCSC Ensembl
chr20:15344025..15390012hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg3845989
hg1945988
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17731166
Samples
Known GenesMACROD2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5532552
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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