A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5957356



Internal ID22732480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:80564800..80564800hg38UCSC Ensembl
chr8:81477035..81477035hg19UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg38175
hg19175
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17430376
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5957356
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