A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6025135



Internal ID21934478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:48316722..48316781hg38UCSC Ensembl
chr13:48890858..48890917hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17597584
Samples
Known GenesRB1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6025135
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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