A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6253672



Internal ID22058282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:57606197..57606197hg38UCSC Ensembl
chr1:58071869..58071869hg19UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg38189
hg19189
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17854763
Samples
Known GenesDAB1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6253672
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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