A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6260094



Internal ID22064704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:184177334..184177334hg38UCSC Ensembl
chr3:183895122..183895122hg19UCSC Ensembl
Cytoband3q27.1
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17852847
Samples
Known GenesAP2M1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6260094
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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