A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6244317



Internal ID22048927
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:87849792..87849792hg38UCSC Ensembl
chr1:88315475..88315475hg19UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg38271
hg19271
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17855982
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6244317
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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