A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6250992



Internal ID22055602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:30776877..30776877hg38UCSC Ensembl
chr19:31267784..31267784hg19UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17848240
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6250992
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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