A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6258372



Internal ID22062982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:220418486..220418486hg38UCSC Ensembl
chr1:220591828..220591828hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3895
hg1995
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17844633
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6258372
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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