A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5540103



Internal ID287408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:51224698..51224733hg38UCSC Ensembl
chr7:51292395..51292430hg19UCSC Ensembl
Cytoband7p12.1
Allele length
AssemblyAllele length
hg38320
hg19320
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16995845
Samples
Known GenesCOBL
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5540103
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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