A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6250432



Internal ID22055042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:74637145..74637145hg38UCSC Ensembl
chr16:74671043..74671043hg19UCSC Ensembl
Cytoband16q23.1
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 Variantsnssv17847771
Samples
Known GenesRFWD3
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6250432
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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