A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17385197



Internal ID22443067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:58783539..58783630hg38UCSC Ensembl
chr1:59249211..59249302hg19UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg3892
hg1992
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5873894
Supporting Variants
Samples
Known GenesJUN
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17385197
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