A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6244082



Internal ID22048692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:54052431..54052431hg38UCSC Ensembl
chr4:54918598..54918598hg19UCSC Ensembl
Cytoband4q12
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 Variantsnssv17856773
Samples
Known GenesCHIC2
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6244082
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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