A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5486899



Internal ID264250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:95410006..95419286hg38UCSC Ensembl
chr7:95039318..95048598hg19UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg389281
hg199281
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16999715
Samples
Known GenesPON2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5486899
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