A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16897837



Internal ID172719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:246940352..246941444hg38UCSC Ensembl
chr1:247103654..247104746hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg381093
hg191093
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6140097
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16897837
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.006094


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