A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5542290



Internal ID316725
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:104586512..104586559hg38UCSC Ensembl
chr7:104226959..104227006hg19UCSC Ensembl
Cytoband7q22.2
Allele length
AssemblyAllele length
hg38266
hg19266
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17003026
Samples
Known GenesLHFPL3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5542290
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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