A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17463849



Internal ID22521735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:220115300..220120336hg38UCSC Ensembl
chr1:220288642..220293678hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg385037
hg195037
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5829203
Supporting Variants
Samples
Known GenesIARS2, MIR194-1, MIR215, RNU5F-1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17463849
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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