A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5875748



Internal ID22650706
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:77769707..77770024hg38UCSC Ensembl
chr1:78235392..78235709hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38318
hg19318
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17387145
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5875748
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