A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16969303



Internal ID46856
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:125403491..125403603hg38UCSC Ensembl
chr6:125724637..125724749hg19UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg38113
hg19113
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5457624
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16969303
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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