A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5424057



Internal ID203060
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:108930522..108930627hg38UCSC Ensembl
chr1:109473144..109473249hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg38106
hg19106
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16908814
Samples
Known GenesCLCC1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5424057
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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