A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5481540



Internal ID259015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:130887277..130887347hg38UCSC Ensembl
chr7:130572036..130572106hg19UCSC Ensembl
Cytoband7q32.3
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17003592
Samples
Known GenesLOC646329
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5481540
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