A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6257130



Internal ID22061740
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:123471651..123471651hg38UCSC Ensembl
chr6:123792796..123792796hg19UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg38195
hg19195
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17857517
Samples
Known GenesTRDN
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6257130
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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