A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17730331



Internal ID153997
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 StatusS
Merged Variantsnsv5555197
Supporting Variants
Samples
Known GenesTMC2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17730331
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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