A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16899467



Internal ID420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:240932923..240934003hg38UCSC Ensembl
chr1:241096223..241097303hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg381081
hg191081
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5448420
Supporting Variants
Samples
Known GenesRGS7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16899467
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.007651


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