A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16897438



Internal ID172447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:15467056..15486948hg38UCSC Ensembl
chr1:15793551..15813443hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3819893
hg1919893
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5427815
Supporting Variants
Samples
Known GenesCELA2A, CELA2B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16897438
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