A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6479329



Internal ID21136882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:29049301..29051700hg38UCSC Ensembl
chr13:29623438..29625837hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg382400
hg192400
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18007841
Samples
Known GenesMTUS2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6479329
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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