A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16987562



Internal ID59148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:121085594..121085645hg38UCSC Ensembl
chr6:121406740..121406791hg19UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg386015
hg196015
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5554297
Supporting Variants
Samples
Known GenesTBC1D32
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16987562
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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