A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5556641



Internal ID329775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:40910859..40910910hg38UCSC Ensembl
chr13:41484995..41485046hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg386017
hg196017
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17687120
Samples
Known GenesTPTE2P5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5556641
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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