A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17417100



Internal ID22474970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:8182100..8183986hg38UCSC Ensembl
chr5:8182213..8184099hg19UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg381887
hg191887
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5903087
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17417100
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