A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5557385



Internal ID330484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:157553731..157553782hg38UCSC Ensembl
chr7:157346425..157346476hg19UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg38456
hg19456
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17007836
Samples
Known GenesPTPRN2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5557385
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