A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5516636



Internal ID293086
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:64217130..64261763hg38UCSC Ensembl
chr20:62848483..62893116hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg3844634
hg1944634
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17733742
Samples
Known GenesMYT1, PCMTD2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5516636
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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