A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5406199



Internal ID185540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:111113648..111113695hg38UCSC Ensembl
chr7:110753704..110753751hg19UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17000328
Samples
Known GenesIMMP2L, LRRN3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5406199
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