A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5522032



Internal ID298305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:14923626..15194801hg38UCSC Ensembl
chr20:14904272..15175447hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg38271176
hg19271176
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv308n206
Supporting Variantsnssv17731132
Samples
Known GenesMACROD2, MACROD2-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5522032
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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