A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18171028



Internal ID20738068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:8792037..8792548hg38UCSC Ensembl
chr8:8649547..8650058hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38512
hg19512
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6416588
Supporting Variants
Samples
Known GenesMFHAS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18171028
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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