A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5407335



Internal ID186669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:117595833..117595884hg38UCSC Ensembl
chr6:117916996..117917047hg19UCSC Ensembl
Cytoband6q22.1
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16987690
Samples
Known GenesGOPC
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5407335
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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