A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6255715



Internal ID22060325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:171901499..171901499hg38UCSC Ensembl
chr4:172822650..172822650hg19UCSC Ensembl
Cytoband4q34.1
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17857689
Samples
Known GenesGALNTL6
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6255715
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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