A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17441049



Internal ID22498919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:837403..902349hg38UCSC Ensembl
chr8:787403..852349hg19UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg3864947
hg1964947
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5926009
Supporting Variants
Samples
Known GenesERICH1-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17441049
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