A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17350540



Internal ID22576209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:234150257..234150395hg38UCSC Ensembl
chr1:234286003..234286141hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg38139
hg19139
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5874726
Supporting Variants
Samples
Known GenesSLC35F3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17350540
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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