A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5521836



Internal ID298116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:36902802..36903614hg38UCSC Ensembl
chr20:35531205..35532017hg19UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg38813
hg19813
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17732229
Samples
Known GenesSAMHD1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5521836
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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