A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6250434



Internal ID22055044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:74673929..74673929hg38UCSC Ensembl
chr16:74707827..74707827hg19UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg38210
hg19210
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17847774
Samples
Known GenesMLKL
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6250434
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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