A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6250840



Internal ID22055450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:49501376..49501376hg38UCSC Ensembl
chr17:47578738..47578738hg19UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg38259
hg19259
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17848527
Samples
Known GenesNGFR
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6250840
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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