A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16888953



Internal ID166696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:119172194..119179939hg38UCSC Ensembl
chr1:119714817..119722562hg19UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg387746
hg197746
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5422096
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16888953
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