A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16904092



Internal ID3547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:70354818..70359385hg38UCSC Ensembl
chr1:70820501..70825068hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg384568
hg194568
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5432271
Supporting Variants
Samples
Known GenesHHLA3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16904092
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000468


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