A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17003021



Internal ID69632
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 StatusS
Merged Variantsnsv5484936
Supporting Variants
Samples
Known GenesLHFPL3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17003021
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.001249


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