A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17694054



Internal ID117720
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:97242821..97248469hg38UCSC Ensembl
chr13:97895075..97900723hg19UCSC Ensembl
Cytoband13q32.1
Allele length
AssemblyAllele length
hg385649
hg195649
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5494514
Supporting Variants
Samples
Known GenesMBNL2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17694054
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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