A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6253985



Internal ID22058595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:48524227..48524227hg38UCSC Ensembl
chr3:48561660..48561660hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38262
hg19262
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17852152
Samples
Known GenesPFKFB4
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6253985
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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