A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5397500



Internal ID176906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:75108173..75108224hg38UCSC Ensembl
chr2:75335299..75335350hg19UCSC Ensembl
Cytoband2p12
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 Variantsnssv16916154
Samples
Known GenesTACR1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5397500
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