A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16987495



Internal ID59103
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:119261740..119282634hg38UCSC Ensembl
chr6:119582905..119603799hg19UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg3820895
hg1920895
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5470387
Supporting Variants
Samples
Known GenesMAN1A1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16987495
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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