A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5481740



Internal ID259210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:112846389..112851804hg38UCSC Ensembl
chr7:112486444..112491859hg19UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg385416
hg195416
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17004206
Samples
Known GenesC7orf60
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5481740
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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