A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16986714



Internal ID58583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:108344056..108357102hg38UCSC Ensembl
chr6:108665260..108678306hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg3813047
hg1913047
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5467435
Supporting Variants
Samples
Known GenesLACE1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16986714
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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