A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5508713



Internal ID285399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:40804000..40832106hg38UCSC Ensembl
chr13:41378136..41406242hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg3828107
hg1928107
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17687112
Samples
Known GenesMIR621, SLC25A15, TPTE2P5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5508713
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