A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17439375



Internal ID22497245
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:55533616..55535441hg38UCSC Ensembl
chr8:56446175..56448000hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg381826
hg191826
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5918831
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17439375
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