A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16980351



Internal ID54275
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:28325553..28325553hg38UCSC Ensembl
chr6:28293330..28293330hg19UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg38312
hg19312
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5399023
Supporting Variants
Samples
Known GenesZSCAN31
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16980351
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.006721


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