A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17356343



Internal ID22582012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:241996909..241996909hg38UCSC Ensembl
chr1:242160211..242160211hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38180
hg19180
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5949264
Supporting Variants
Samples
Known GenesMAP1LC3C
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17356343
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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