A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5419105



Internal ID198253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:94324446..94324497hg38UCSC Ensembl
chr13:94976700..94976751hg19UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg38238
hg19238
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17694452
Samples
Known GenesGPC6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5419105
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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