A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5557895



Internal ID330975
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:75705806..75705857hg38UCSC Ensembl
chr13:76279942..76279993hg19UCSC Ensembl
Cytoband13q22.2
Allele length
AssemblyAllele length
hg386018
hg196018
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17691844
Samples
Known GenesLMO7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5557895
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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