A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6250257



Internal ID22054867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:48752062..48752062hg38UCSC Ensembl
chr16:48785973..48785973hg19UCSC Ensembl
Cytoband16q12.1
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 Variantsnssv17847205
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6250257
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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