A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17420963



Internal ID22478833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:62066485..62066765hg38UCSC Ensembl
chr4:62932203..62932483hg19UCSC Ensembl
Cytoband4q13.1
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5899555
Supporting Variants
Samples
Known GenesLPHN3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17420963
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