A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6244005



Internal ID22048615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:40979503..40979503hg38UCSC Ensembl
chr4:40981520..40981520hg19UCSC Ensembl
Cytoband4p14
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 Variantsnssv17856705
Samples
Known GenesAPBB2
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6244005
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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