A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5972956



Internal ID22747891
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:42213265..42213265hg38UCSC Ensembl
chr20:40841905..40841905hg19UCSC Ensembl
Cytoband20q12
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17399570
Samples
Known GenesPTPRT
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5972956
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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