A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6253694



Internal ID22058304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:58051432..58051432hg38UCSC Ensembl
chr1:58517104..58517104hg19UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg38103
hg19103
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17854765
Samples
Known GenesDAB1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6253694
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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