A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5561126



Internal ID334113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:95304521..95306178hg38UCSC Ensembl
chr7:94933833..94935490hg19UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg381658
hg191658
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16999709
Samples
Known GenesPON1
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5561126
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer