A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16901731



Internal ID1947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:42737862..42737899hg38UCSC Ensembl
chr1:43203533..43203570hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38200
hg19200
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5542057
Supporting Variants
Samples
Known GenesCLDN19
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16901731
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00281


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