A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6241008



Internal ID22045618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:227726193..227726193hg38UCSC Ensembl
chr1:227913894..227913894hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38273
hg19273
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17844277
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6241008
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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