A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5885241



Internal ID22660225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:151071001..151088209hg38UCSC Ensembl
chr1:151043477..151060685hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3817209
hg1917209
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17356689
Samples
Known GenesGABPB2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5885241
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