A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5926525



Internal ID22701752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:158275718..158283686hg38UCSC Ensembl
chr7:158068410..158076378hg19UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg387969
hg197969
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17436572
Samples
Known GenesPTPRN2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5926525
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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