A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16987882



Internal ID59358
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:107288538..107288589hg38UCSC Ensembl
chr6:107609742..107609793hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5555329
Supporting Variants
Samples
Known GenesPDSS2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16987882
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000469


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