A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5454390



Internal ID232492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:136433..405503hg38UCSC Ensembl
chr7:136433..445469hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg38269071
hg19309037
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16991714
Samples
Known GenesFAM20C, LOC100288524, LOC100507642, LOC442497
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5454390
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