A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5493069



Internal ID270262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:104097187..104361255hg38UCSC Ensembl
chr7:103737634..104001703hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38264069
hg19264070
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17000841
Samples
Known GenesLHFPL3, ORC5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5493069
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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