A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17687585



Internal ID111251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:48318163..48318289hg38UCSC Ensembl
chr13:48892299..48892425hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg38127
hg19127
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5499177
Supporting Variants
Samples
Known GenesRB1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17687585
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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