A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17523375



Internal ID21847734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:235140967..235141287hg38UCSC Ensembl
chr1:235304282..235304602hg19UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg38321
hg19321
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5982936
Supporting Variants
Samples
Known GenesRBM34
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17523375
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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