A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5394549



Internal ID173978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:124899086..124899137hg38UCSC Ensembl
chr7:124539140..124539191hg19UCSC Ensembl
Cytoband7q31.33
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 Variantsnssv17001864
Samples
Known GenesPOT1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5394549
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