A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5971902



Internal ID22746837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:40043885..40043885hg38UCSC Ensembl
chr17:38200138..38200138hg19UCSC Ensembl
Cytoband17q21.1
Allele length
AssemblyAllele length
hg38277
hg19277
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17383351
Samples
Known GenesMED24
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5971902
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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