A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17412504



Internal ID22470374
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:4640623..4640623hg38UCSC Ensembl
chr4:4642350..4642350hg19UCSC Ensembl
Cytoband4p16.2
Allele length
AssemblyAllele length
hg38192
hg19192
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5956707
Supporting Variants
Samples
Known GenesSTX18-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17412504
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