A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5975370



Internal ID22750305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:94597249..94597249hg38UCSC Ensembl
chr13:95249503..95249503hg19UCSC Ensembl
Cytoband13q32.1
Allele length
AssemblyAllele length
hg38146
hg19146
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17372944
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5975370
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