A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5555197



Internal ID328361
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:2537680..2537706hg38UCSC Ensembl
chr20:2518326..2518352hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg381246
hg191246
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17730331
Samples
Known GenesTMC2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5555197
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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