A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6251047



Internal ID22055657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:40583183..40583183hg38UCSC Ensembl
chr19:41089089..41089089hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38277
hg19277
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17849880
Samples
Known GenesSHKBP1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6251047
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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