A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5927668



Internal ID22702898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:75471835..75472152hg38UCSC Ensembl
chr13:76045971..76046288hg19UCSC Ensembl
Cytoband13q22.2
Allele length
AssemblyAllele length
hg38318
hg19318
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17387183
Samples
Known GenesTBC1D4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5927668
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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