A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16989547



Internal ID60457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:158997850..158998272hg38UCSC Ensembl
chr6:159418882..159419304hg19UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg38423
hg19423
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6140610
Supporting Variants
Samples
Known GenesRSPH3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16989547
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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