A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5877309



Internal ID22652273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:169126433..169126557hg38UCSC Ensembl
chr1:169095671..169095795hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg38125
hg19125
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17350840
Samples
Known GenesATP1B1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5877309
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