A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6245793



Internal ID22050403
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:177895532..177895532hg38UCSC Ensembl
chr1:177864667..177864667hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg38240
hg19240
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17839385
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6245793
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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