A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6250721



Internal ID22055331
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:28650844..28650844hg38UCSC Ensembl
chr17:26977862..26977862hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38271
hg19271
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17848198
Samples
Known GenesSDF2
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6250721
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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