A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5481083



Internal ID258577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:57622242..58024242hg38UCSC Ensembl
chr7:57681948..58054331hg19UCSC Ensembl
Cytoband7p11.1
Allele length
AssemblyAllele length
hg38402001
hg19372384
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16998526
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5481083
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