A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16897035



Internal ID172178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:14496576..14496675hg38UCSC Ensembl
chr1:14823072..14823171hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg38100
hg19100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5423028
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16897035
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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