A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6243984



Internal ID22048594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:39280141..39280141hg38UCSC Ensembl
chr4:39281761..39281761hg19UCSC Ensembl
Cytoband4p14
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 Variantsnssv17856686
Samples
Known GenesMIR1273H, WDR19
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6243984
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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