A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5479559



Internal ID257078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:121923765..121926700hg38UCSC Ensembl
chr7:121563819..121566754hg19UCSC Ensembl
Cytoband7q31.32
Allele length
AssemblyAllele length
hg382936
hg192936
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17001775
Samples
Known GenesPTPRZ1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5479559
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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