A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5511667



Internal ID288239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:30880951..30882715hg38UCSC Ensembl
chr13:31455088..31456852hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg381765
hg191765
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17686622
Samples
Known GenesLINC00545
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5511667
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