A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6242670



Internal ID22047280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:6785211..6785211hg38UCSC Ensembl
chr1:6845271..6845271hg19UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg38231
hg19231
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17849542
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6242670
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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