A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5900799



Internal ID22675945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:42555086..42555138hg38UCSC Ensembl
chr4:42557103..42557155hg19UCSC Ensembl
Cytoband4p13
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17421098
Samples
Known GenesATP8A1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5900799
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