A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5646885



Internal ID21595190
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:80113808..80113808hg38UCSC Ensembl
chr17:78087607..78087607hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38315
hg19315
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17092375
SamplesHG00512
Known GenesGAA
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5646885
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer