A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5495012



Internal ID272138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:41504306..41504363hg38UCSC Ensembl
chr13:42078442..42078499hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17687167
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5495012
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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