A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16898201



Internal ID172944
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:227137149..227137477hg38UCSC Ensembl
chr1:227324850..227325178hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38329
hg19329
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5435420
Supporting Variants
Samples
Known GenesCDC42BPA
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16898201
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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