A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6250578



Internal ID22055188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:5400157..5400157hg38UCSC Ensembl
chr17:5303477..5303477hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg38275
hg19275
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17848063
Samples
Known GenesNUP88
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6250578
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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