A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17510319



Internal ID22568269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:99043227..99047948hg38UCSC Ensembl
chr8:100055455..100060176hg19UCSC Ensembl
Cytoband8q22.2
Allele length
AssemblyAllele length
hg384722
hg194722
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5851715
Supporting Variants
Samples
Known GenesVPS13B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17510319
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer