A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5413013



Internal ID192311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:71380657..71380708hg38UCSC Ensembl
chr4:72246374..72246425hg19UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16950666
Samples
Known GenesSLC4A4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5413013
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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