A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5484936



Internal ID262334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:104550130..104550374hg38UCSC Ensembl
chr7:104190577..104190821hg19UCSC Ensembl
Cytoband7q22.2
Allele length
AssemblyAllele length
hg38245
hg19245
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17003021
Samples
Known GenesLHFPL3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5484936
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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