A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6239531



Internal ID22044141
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:104660684..104660684hg38UCSC Ensembl
chr7:104301131..104301131hg19UCSC Ensembl
Cytoband7q22.2
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17838732
Samples
Known GenesLHFPL3
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6239531
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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