A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16978044



Internal ID52768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:6367786..6367837hg38UCSC Ensembl
chr6:6368019..6368070hg19UCSC Ensembl
Cytoband6p25.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5399572
Supporting Variants
Samples
Known GenesLY86-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16978044
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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