A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5404082



Internal ID183439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:14013213..14013264hg38UCSC Ensembl
chr7:14052838..14052889hg19UCSC Ensembl
Cytoband7p21.2
Allele length
AssemblyAllele length
hg38238
hg19238
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16993053
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5404082
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