A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6250312



Internal ID22054922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:56568260..56568260hg38UCSC Ensembl
chr16:56602172..56602172hg19UCSC Ensembl
Cytoband16q12.2
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 Variantsnssv17847260
Samples
Known GenesMT4
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6250312
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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