A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6253328



Internal ID22057938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:53242772..53242772hg38UCSC Ensembl
chr1:53708444..53708444hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17853187
Samples
Known GenesLOC100507564, LRP8
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6253328
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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